ClinVar for Gene (Select 9241) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3061127	NM_005450.6(NOG):c.499C>T (p.Arg167Cys)	NOG (R167C)	Single nucleotide variant (missense variant)	NOG-related condition	GLikely pathogenic
Select item 3030517	NM_005450.6(NOG):c.450G>A (p.Trp150Ter)	NOG (W150*)	Single nucleotide variant (nonsense)	NOG-related condition	GLikely pathogenic
Select item 3030269	NM_005450.6(NOG):c.301C>T (p.Leu101=)	NOG	Single nucleotide variant (synonymous variant)	NOG-related condition	GLikely benign
Select item 3021801	NM_005450.6(NOG):c.602C>T (p.Thr201Met)	NOG (T201M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3021440	NM_005450.6(NOG):c.272G>C (p.Gly91Ala)	NOG (G91A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012865	NM_005450.6(NOG):c.246G>A (p.Ser82=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009939	NM_005450.6(NOG):c.361A>C (p.Lys121Gln)	NOG (K121Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009479	NM_005450.6(NOG):c.180T>A (p.Asp60Glu)	NOG (D60E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006028	NM_005450.6(NOG):c.259C>T (p.Arg87Trp)	NOG (R87W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2992310	NM_005450.6(NOG):c.592G>T (p.Val198Leu)	NOG (V198L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991494	NM_005450.6(NOG):c.350C>G (p.Pro117Arg)	NOG (P117R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990171	NM_005450.6(NOG):c.43G>A (p.Val15Met)	NOG (V15M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985175	NM_005450.6(NOG):c.635G>A (p.Gly212Asp)	NOG (G212D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983506	NM_005450.6(NOG):c.75C>T (p.Ala25=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2980641	NM_005450.6(NOG):c.411A>C (p.Leu137=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2979152	NM_005450.6(NOG):c.679G>C (p.Glu227Gln)	NOG (E227Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978303	NM_005450.6(NOG):c.40C>T (p.Leu14=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976382	NM_005450.6(NOG):c.39C>A (p.Ala13=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972864	NM_005450.6(NOG):c.613T>G (p.Trp205Gly)	NOG (W205G)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2906869	NM_005450.6(NOG):c.402G>A (p.Lys134=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2893795	NM_005450.6(NOG):c.555C>G (p.Ser185=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893794	NM_005450.6(NOG):c.549G>A (p.Ser183=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2892213	NM_005450.6(NOG):c.247C>T (p.Pro83Ser)	NOG (P83S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2890161	NM_005450.6(NOG):c.343G>A (p.Ala115Thr)	NOG (A115T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2879678	NM_005450.6(NOG):c.127C>T (p.Leu43=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875816	NM_005450.6(NOG):c.632G>A (p.Gly211Glu)	NOG (G211E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871919	NM_005450.6(NOG):c.646G>C (p.Gly216Arg)	NOG (G216R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2859647	NM_005450.6(NOG):c.601A>G (p.Thr201Ala)	NOG (T201A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2859600	NM_005450.6(NOG):c.437A>T (p.Gln146Leu)	NOG (Q146L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2854882	NM_005450.6(NOG):c.48G>A (p.Val16=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2854500	NM_005450.6(NOG):c.487G>A (p.Asp163Asn)	NOG (D163N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2854242	NM_005450.6(NOG):c.287G>A (p.Gly96Glu)	NOG (G96E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2846695	NM_005450.6(NOG):c.346A>C (p.Met116Leu)	NOG (M116L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2843627	NM_005450.6(NOG):c.331C>A (p.Arg111=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2841276	NM_005450.6(NOG):c.64G>A (p.Ala22Thr)	NOG (A22T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2815588	NM_005450.6(NOG):c.254A>T (p.Glu85Val)	NOG (E85V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2813244	NM_005450.6(NOG):c.512_513delinsTA (p.Arg171Leu)	NOG (R171L)	Indel (missense variant)	not provided	GUncertain significance
Select item 2807225	NM_005450.6(NOG):c.305C>A (p.Ala102Glu)	NOG (A102E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2801756	NM_005450.6(NOG):c.639G>T (p.Gln213His)	NOG (Q213H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2795160	NM_005450.6(NOG):c.521A>G (p.Lys174Arg)	NOG (K174R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2793303	NM_005450.6(NOG):c.96C>T (p.His32=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2793113	NM_005450.6(NOG):c.395G>T (p.Gly132Val)	NOG (G132V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2788816	NM_005450.6(NOG):c.155C>G (p.Pro52Arg)	NOG (P52R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2787906	NM_005450.6(NOG):c.472C>T (p.Leu158=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2779775	NM_005450.6(NOG):c.425G>A (p.Arg142Gln)	NOG (R142Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2771612	NM_005450.6(NOG):c.43G>T (p.Val15Leu)	NOG (V15L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2769660	NM_005450.6(NOG):c.511C>T (p.Arg171Cys)	NOG (R171C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2769579	NM_005450.6(NOG):c.469G>A (p.Val157Met)	NOG (V157M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2759742	NM_005450.6(NOG):c.329A>T (p.Gln110Leu)	NOG (Q110L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2753455	NM_005450.6(NOG):c.550T>G (p.Cys184Gly)	NOG (C184G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2747294	NM_005450.6(NOG):c.612G>C (p.Arg204=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2717781	NM_005450.6(NOG):c.42G>A (p.Leu14=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2714019	NM_005450.6(NOG):c.680A>C (p.Glu227Ala)	NOG (E227A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2711921	NM_005450.6(NOG):c.517G>A (p.Val173Met)	NOG (V173M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2710016	NM_005450.6(NOG):c.379G>A (p.Glu127Lys)	NOG (E127K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2699744	NM_005450.6(NOG):c.621T>A (p.Cys207Ter)	NOG (C207*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2672716	GRCh37/hg19 17q22(chr17:54671585-54672283)x1	NOG	Copy number loss	not provided	GPathogenic
Select item 2663770	NM_005450.6(NOG):c.553T>C (p.Ser185Pro)	NOG (S185P)	Single nucleotide variant (missense variant)	Stapes ankylosis with broad thumbs and toes	GLikely pathogenic
Select item 2647949	NM_005450.6(NOG):c.613T>C (p.Trp205Arg)	NOG (W205R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2633372	NM_005450.6(NOG):c.556_560dup (p.Glu188fs)	NOG (E188fs)	Duplication (frameshift variant)	NOG-related condition	GLikely pathogenic
Select item 2581938	NM_005450.6(NOG):c.245C>A (p.Ser82Ter)	NOG (S82*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2576130	NM_005450.6(NOG):c.470T>A (p.Val157Glu)	NOG (V157E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2573208	NM_005450.6(NOG):c.101G>C (p.Arg34Pro)	NOG (R34P)	Single nucleotide variant (missense variant)	Proximal symphalangism 1A	GUncertain significance
Select item 2550235	NM_005450.6(NOG):c.107C>T (p.Ala36Val)	NOG (A36V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2534343	NM_005450.6(NOG):c.67A>G (p.Thr23Ala)	NOG (T23A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2434386	NM_005450.6(NOG):c.457A>G (p.Thr153Ala)	NOG (T153A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2308297	NM_005450.6(NOG):c.89A>T (p.Tyr30Phe)	NOG (Y30F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2200452	NM_005450.6(NOG):c.338C>T (p.Ser113Leu)	NOG (S113L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2185329	NM_005450.6(NOG):c.170A>G (p.Lys57Arg)	NOG (K57R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2180260	NM_005450.6(NOG):c.251C>T (p.Pro84Leu)	NOG (P84L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2173080	NM_005450.6(NOG):c.213G>C (p.Gly71=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2138090	NM_005450.6(NOG):c.283G>A (p.Ala95Thr)	NOG (A95T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2110255	NM_005450.6(NOG):c.378C>T (p.Ser126=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2106077	NM_005450.6(NOG):c.481T>C (p.Trp161Arg)	NOG (W161R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2103503	NM_005450.6(NOG):c.622C>G (p.Gln208Glu)	NOG (Q208E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2094814	NM_005450.6(NOG):c.541A>G (p.Lys181Glu)	NOG (K181E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2058189	NM_005450.6(NOG):c.583T>C (p.Ser195Pro)	NOG (S195P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2046931	NM_005450.6(NOG):c.33C>G (p.Leu11=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2035822	NM_005450.6(NOG):c.203C>T (p.Ser68Leu)	NOG (S68L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2019665	NM_005450.6(NOG):c.261G>T (p.Arg87=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2016211	NM_005450.6(NOG):c.101G>T (p.Arg34Leu)	NOG (R34L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2007676	NM_005450.6(NOG):c.683G>T (p.Cys228Phe)	NOG (C228F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2006555	NM_005450.6(NOG):c.528C>T (p.Gly176=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1995493	NM_005450.6(NOG):c.592G>A (p.Val198Met)	NOG (V198M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1991302	NM_005450.6(NOG):c.186C>T (p.Asn62=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1987629	NM_005450.6(NOG):c.354C>A (p.Ser118Arg)	NOG (S118R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1972111	NM_005450.6(NOG):c.159C>G (p.Ile53Met)	NOG (I53M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1960997	NM_005450.6(NOG):c.556G>T (p.Val186Leu)	NOG (V186L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1941558	NM_005450.6(NOG):c.291C>T (p.Gly97=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1939617	NM_005450.6(NOG):c.223G>C (p.Asp75His)	NOG (D75H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1933961	NM_005450.6(NOG):c.393G>A (p.Gln131=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1933197	NM_005450.6(NOG):c.127C>G (p.Leu43Val)	NOG (L43V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1927793	NM_005450.6(NOG):c.549G>C (p.Ser183=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1919381	NM_005450.6(NOG):c.121C>T (p.Leu41=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1913106	NM_005450.6(NOG):c.78C>T (p.Gly26=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1910751	NM_005450.6(NOG):c.45G>T (p.Val15=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1910332	NM_005450.6(NOG):c.201C>T (p.Arg67=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1674759	NM_005450.6(NOG):c.384C>T (p.Gly128=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1653004	NM_005450.6(NOG):c.39C>T (p.Ala13=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1625520	NM_005450.6(NOG):c.618C>T (p.Arg206=)	NOG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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