ClinVar for Gene (Select 6941) - ClinVar

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Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2611378	NM_007109.3(TCF19):c.433G>A (p.Val145Ile)	TCF19 (V145I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472669	NM_007109.3(TCF19):c.583A>C (p.Ser195Arg)	TCF19 (S195R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471401	NM_007109.3(TCF19):c.308C>A (p.Thr103Asn)	TCF19 (T103N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455817	NM_007109.3(TCF19):c.943G>A (p.Val315Ile)	TCF19 (V315I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	KIFC1, LEMD2 +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2424220	NC_000006.11:g.(?_30695893)_(31937492_?)dup	ABHD16A, AIF1 +63 more	Duplication	not provided	GUncertain significance
Select item 2401972	NM_007109.3(TCF19):c.344C>T (p.Ser115Leu)	TCF19 (S115L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376428	NM_007109.3(TCF19):c.278G>A (p.Arg93Lys)	TCF19 (R93K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327992	NM_007109.3(TCF19):c.841A>G (p.Met281Val)	TCF19 (M281V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312405	NM_007109.3(TCF19):c.622C>T (p.Pro208Ser)	TCF19 (P208S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303600	NM_007109.3(TCF19):c.818G>A (p.Arg273Gln)	TCF19 (R273Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294383	NM_007109.3(TCF19):c.865G>A (p.Gly289Arg)	TCF19 (G289R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263284	NM_007109.3(TCF19):c.194G>A (p.Arg65Gln)	TCF19 (R65Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2232436	NM_007109.3(TCF19):c.128C>A (p.Ala43Asp)	TCF19 (A43D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211579	NM_007109.3(TCF19):c.754A>G (p.Arg252Gly)	TCF19 (R252G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1280459	NM_007109.3(TCF19):c.325C>T (p.Pro109Ser)	TCF19 (P109S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1181041	NM_007109.3(TCF19):c.631A>G (p.Met211Val)	TCF19 (M211V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 984404	NM_007109.3(TCF19):c.482G>A (p.Arg161Gln)	TCF19 (R161Q)	Single nucleotide variant (missense variant)	Sensorineural hearing loss disorder	GUncertain significance
Select item 974733	NC_000006.11:g.28005012_31683185del	ABCF1, ABHD16A +106 more	Deletion	Megacolon	GLikely pathogenic
Select item 814807	GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	ABHD16A, AGER +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 714312	NM_007109.3(TCF19):c.557G>A (p.Arg186Gln)	TCF19 (R186Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic
Select item 221339	Single allele	CCHCR1, CDSN +6 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 30