12299[HGNC] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC130000015, LOC130000016 +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	DEFA1B, DEFA3 +3658 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	LOC110121192, LOC110121196 +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	AARD, ABRA +3652 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	LOC130000067, LOC130000068 +3656 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	GPAT4, GPAT4-AS1 +3106 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC130000897, LOC130000898 +1960 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	PARP10, PCAT1 +1690 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC130000867, LOC130000868 +1686 more	Copy number gain	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC130001282, LOC130001283 +1552 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1152 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	AARD, ABRA +1531 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130000908, LOC130000909 +1406 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1329 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130001243, LOC130001244 +1204 more	Copy number gain	See cases	GPathogenic
Select item 149076	GRCh38/hg38 8q22.3-23.1(chr8:101171263-109127664)x1	ABRA, ANGPT1 +188 more	Copy number loss	See cases	GPathogenic
Select item 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001328, LOC130001329 +1067 more	Copy number gain	See cases	GPathogenic
Select item 58431	GRCh38/hg38 8q23.1-23.2(chr8:107356178-110913494)x3	ANGPT1, EBAG9 +32 more	Copy number gain	See cases	GUncertain significance
Select item 153936	GRCh38/hg38 8q23.1-23.2(chr8:108988194-109697085)x3	EBAG9, ENY2 +15 more	Copy number gain	See cases	GLikely benign
Select item 3055065	NM_003301.7(TRHR):c.9C>T (p.Asn3=)	TRHR	Single nucleotide variant (synonymous variant)	TRHR-related condition	GLikely benign
Select item 2454554	NM_003301.7(TRHR):c.35C>T (p.Thr12Ile)	TRHR (T12I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 12682	NM_003301.7(TRHR):c.49C>T (p.Arg17Ter)	TRHR (R17*)	Single nucleotide variant (nonsense)	Hypothyroidism, congenital, nongoitrous, 7	GPathogenic
Select item 715012	NM_003301.7(TRHR):c.123A>G (p.Val41=)	TRHR	Single nucleotide variant (synonymous variant)	TRHR-related condition +1 more	GBenign/Likely benign
Select item 2658747	NM_003301.7(TRHR):c.151A>C (p.Met51Leu)	TRHR (M51L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 689395	NM_003301.7(TRHR):c.242C>G (p.Pro81Arg)	TRHR (P81R)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 7	GLikely pathogenic
Select item 2350524	NM_003301.7(TRHR):c.301A>G (p.Ile101Val)	TRHR (I101V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 12681	NM_003301.7(TRHR):c.343_352delinsA (p.Ser115_Ala118delinsThr)	TRHR	Indel (inframe_indel)	Hypothyroidism, congenital, nongoitrous, 7	GLikely pathogenic
Select item 725251	NM_003301.7(TRHR):c.379A>G (p.Ile127Val)	TRHR (I127V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 689396	NM_003301.7(TRHR):c.392T>C (p.Ile131Thr)	TRHR (I131T)	Single nucleotide variant (missense variant)	Hypothyroidism, congenital, nongoitrous, 7	GPathogenic
Select item 2303542	NM_003301.7(TRHR):c.432G>C (p.Lys144Asn)	TRHR (K144N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 792670	NM_003301.7(TRHR):c.489G>A (p.Leu163=)	TRHR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2286902	NM_003301.7(TRHR):c.533C>A (p.Ser178Tyr)	TRHR (S178Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252665	NM_003301.7(TRHR):c.677A>C (p.Asp226Ala)	TRHR (D226A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3035107	NM_003301.7(TRHR):c.708T>C (p.Asn236=)	TRHR	Single nucleotide variant (synonymous variant)	TRHR-related condition	GLikely benign
Select item 2340825	NM_003301.7(TRHR):c.928T>C (p.Tyr310His)	TRHR (Y310H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 721055	NM_003301.7(TRHR):c.1066G>A (p.Val356Ile)	TRHR (V356I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 724151	NM_003301.7(TRHR):c.1149T>C (p.Ser383=)	TRHR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 1808681	GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	AARD, ABRA +141 more	Copy number gain	not provided	GPathogenic
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1676301	GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	FZD6, PCAT1 +236 more	Copy number gain	not provided	GPathogenic
Select item 1527461	GRCh37/hg19 8q23.1-24.12(chr8:107032887-120742018)	AARD, ABRA +28 more	Copy number loss	not specified	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 979849	GRCh37/hg19 8q23.1-24.13(chr8:108421573-123429638)x3	AARD, ANGPT1 +35 more	Copy number gain	not provided	GPathogenic
Select item 979848	GRCh37/hg19 8q23.1(chr8:109694757-110374218)x3	ENY2, NUDCD1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 815151	GRCh37/hg19 8q23.1-23.2(chr8:109858221-110567774)x1	PKHD1L1, ENY2 +3 more	Copy number loss	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	MICU3, MIR1234 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	VPS13B, VPS28 +474 more	Copy number gain	not provided	GPathogenic
Select item 686772	GRCh37/hg19 8q23.1(chr8:110059050-110132754)x1	TRHR	Copy number loss	not provided	GPathogenic
Select item 686305	GRCh37/hg19 8q22.3-23.3(chr8:104437051-114170843)x1	ABRA, ANGPT1 +20 more	Copy number loss	not provided	GUncertain significance
Select item 563556	GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3	DCAF13, CNGB3 +105 more	Copy number gain	not provided	GPathogenic
Select item 523291	GRCh37/hg19 8q23.1(chr8:109990022-110168343)	TRHR	Copy number loss	Intellectual disability, mild +8 more	GUncertain significance
Select item 443924	GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	AARD, ABRA +277 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	PPP1R16A, PPP1R42 +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	NSD3, NSMAF +665 more	Copy number gain	See cases	GPathogenic
Select item 441804	GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3	AARD, ABRA +160 more	Copy number gain	See cases	GPathogenic
Select item 441594	GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3	C8orf76, CALB1 +189 more	Copy number gain	See cases	GPathogenic
Select item 395449	GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4	COLEC10, COMMD5 +228 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic

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Items: 62