ClinVar for Gene (Select 9868) - ClinVar

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Links from Gene

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247040	NC_000003.11:g.(?_99509527)_(101484395_?)del	ABI3BP, ADGRG7 +16 more	Deletion	not provided	GUncertain significance
Select item 3062743	GRCh37/hg19 3q11.1-12.3(chr3:93519465-101464485)x3	ABI3BP, ADGRG7 +41 more	Copy number gain	not specified	GUncertain significance
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 2443351	NM_014820.5(TOMM70):c.1476del (p.Phe492fs)	TOMM70 (F492fs)	Deletion (frameshift variant)	See cases	GUncertain significance
Select item 2443350	NM_014820.5(TOMM70):c.1612A>G (p.Ile538Val)	TOMM70 (I538V)	Single nucleotide variant (missense variant)	See cases	GLikely benign
Select item 2380876	NM_014820.5(TOMM70):c.1193C>T (p.Pro398Leu)	TOMM70 (P398L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367239	NM_014820.5(TOMM70):c.1367C>T (p.Ser456Leu)	TOMM70 (S456L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2357864	NM_014820.5(TOMM70):c.1784C>G (p.Thr595Arg)	TOMM70 (T595R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251224	NM_014820.5(TOMM70):c.122T>G (p.Leu41Arg)	LOC129937141, TOMM70 (L41R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247403	NM_014820.5(TOMM70):c.230T>G (p.Leu77Arg)	TOMM70 (L77R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241308	NM_014820.5(TOMM70):c.1352C>T (p.Thr451Met)	TOMM70 (T451M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236561	NM_014820.5(TOMM70):c.1082C>G (p.Ala361Gly)	TOMM70 (A361G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1333239	NM_014820.5(TOMM70):c.493C>T (p.Gln165Ter)	TOMM70 (Q165*)	Single nucleotide variant (nonsense)	TOMM70-related neurodevelopmental disorder	GUncertain significance
Select item 986787	NM_014820.5(TOMM70):c.1745C>T (p.Ala582Val)	TOMM70 (A582V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 986786	NM_014820.5(TOMM70):c.794C>T (p.Thr265Met)	TOMM70 (T265M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 980048	GRCh37/hg19 3q11.2-12.3(chr3:95563096-102371126)x1	OR5AC2, GPR15 +39 more	Copy number loss	not provided	GLikely pathogenic
Select item 870576	NM_014820.5(TOMM70):c.1820C>T (p.Thr607Ile)	TOMM70 (T607I)	Single nucleotide variant (missense variant)	TOMM70-related neurodevelopmental disorder	GUncertain significance
Select item 785057	NM_014820.5(TOMM70):c.945T>C (p.Ser315=)	TOMM70	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 155192	GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3	LOC112935964, LOC112935965 +171 more	Copy number gain	See cases	GLikely pathogenic
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 150224	GRCh38/hg38 3q12.1-12.2(chr3:99759385-100405781)x1	CMSS1, COL8A1 +29 more	Copy number loss	See cases	GUncertain significance
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +398 more	Copy number loss	See cases	GPathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 26