ClinVar for Gene (Select 6903) - ClinVar

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Links from Gene

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2623003	NM_003192.3(TBCC):c.515A>G (p.Lys172Arg)	TBCC (K172R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606456	NM_003192.3(TBCC):c.448A>G (p.Thr150Ala)	LOC129996470, TBCC (T150A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605188	NM_003192.3(TBCC):c.175T>G (p.Phe59Val)	TBCC (F59V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557349	NM_003192.3(TBCC):c.903G>C (p.Lys301Asn)	TBCC (K301N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555299	NM_003192.3(TBCC):c.161A>C (p.Lys54Thr)	TBCC (K54T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536192	NM_003192.3(TBCC):c.914G>A (p.Ser305Asn)	TBCC (S305N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2495135	NM_003192.3(TBCC):c.316G>C (p.Ala106Pro)	TBCC (A106P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475252	NM_003192.3(TBCC):c.406C>G (p.Arg136Gly)	LOC129996470, TBCC (R136G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2424354	NC_000006.11:g.(?_42162409)_(44154249_?)del	MRPS18A, PEX6 +43 more	Deletion	not provided	GUncertain significance
Select item 2422887	NC_000006.11:g.(?_41126341)_(43737486_?)dup	BYSL, ABCC10 +57 more	Duplication	PRPH2-Related Disorders	GUncertain significance
Select item 2422814	NC_000006.11:g.(?_41126341)_(43752536_?)del	ABCC10, BICRAL +58 more	Deletion	Peroxisome biogenesis disorder	GPathogenic
Select item 2396999	NM_003192.3(TBCC):c.197G>A (p.Arg66Gln)	LOC129996471, TBCC (R66Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2387896	NM_003192.3(TBCC):c.644C>T (p.Thr215Met)	TBCC (T215M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326152	NM_003192.3(TBCC):c.172C>T (p.His58Tyr)	TBCC (H58Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304258	NM_003192.3(TBCC):c.956A>C (p.Asp319Ala)	TBCC (D319A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286039	NM_003192.3(TBCC):c.554G>A (p.Gly185Asp)	TBCC (G185D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276398	NM_003192.3(TBCC):c.479C>T (p.Pro160Leu)	LOC129996470, TBCC (P160L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238946	NM_003192.3(TBCC):c.17G>C (p.Cys6Ser)	LOC129996472, TBCC (C6S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1341007	GRCh37/hg19 6p21.1(chr6:42548155-43053728)x3	BICRAL, C6orf226 +16 more	Copy number gain	not provided	GUncertain significance
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 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 58428	GRCh38/hg38 6p21.1-12.3(chr6:41638061-46512949)x1	LOC123620117, LOC123620118 +324 more	Copy number loss	See cases	GPathogenic
Select item 58427	GRCh38/hg38 6p21.2-21.1(chr6:37777369-45653843)x1	AARS2, ABCC10 +435 more	Copy number loss	See cases	GPathogenic
Select item 57326	GRCh38/hg38 6p21.1(chr6:42368558-44590544)x1	AARS2, ABCC10 +221 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 26