ClinVar for Gene (Select 55633) - ClinVar

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Links from Gene

Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3324675	NM_017772.4(TBC1D22B):c.692C>G (p.Thr231Ser)	TBC1D22B (T231S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324674	NM_017772.4(TBC1D22B):c.674G>T (p.Gly225Val)	TBC1D22B (G225V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324673	NM_017772.4(TBC1D22B):c.86C>T (p.Pro29Leu)	TBC1D22B (P29L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324672	NM_017772.4(TBC1D22B):c.337C>T (p.Arg113Trp)	TBC1D22B (R113W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3324671	NM_017772.4(TBC1D22B):c.1006G>A (p.Val336Met)	TBC1D22B (V336M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174556	NM_017772.4(TBC1D22B):c.514G>A (p.Ala172Thr)	TBC1D22B (A172T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174555	NM_017772.4(TBC1D22B):c.245C>T (p.Ser82Leu)	TBC1D22B (S82L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174554	NM_017772.4(TBC1D22B):c.1193A>G (p.Tyr398Cys)	TBC1D22B (Y398C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062895	GRCh37/hg19 6p21.2(chr6:37160048-38287691)x3	BTBD9, CCDC167 +6 more	Copy number gain	not specified	GUncertain significance
Select item 2685202	GRCh37/hg19 6p21.31-21.1(chr6:35562152-42003452)x1	BNIP5, APOBEC2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2620085	NM_017772.4(TBC1D22B):c.961G>C (p.Val321Leu)	TBC1D22B (V321L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2617083	NM_017772.4(TBC1D22B):c.1273C>T (p.Arg425Cys)	TBC1D22B (R425C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532510	NM_017772.4(TBC1D22B):c.551C>A (p.Thr184Asn)	TBC1D22B (T184N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521941	NM_017772.4(TBC1D22B):c.1514G>A (p.Arg505Gln)	TBC1D22B (R505Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479174	NM_017772.4(TBC1D22B):c.725G>A (p.Arg242Gln)	TBC1D22B (R242Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469468	NM_017772.4(TBC1D22B):c.389C>A (p.Ser130Tyr)	TBC1D22B (S130Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399767	NM_017772.4(TBC1D22B):c.1399A>C (p.Met467Leu)	TBC1D22B (M467L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387134	NM_017772.4(TBC1D22B):c.718C>T (p.Arg240Trp)	TBC1D22B (R240W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371197	NM_017772.4(TBC1D22B):c.475C>T (p.Pro159Ser)	TBC1D22B (P159S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355554	NM_017772.4(TBC1D22B):c.532A>G (p.Met178Val)	TBC1D22B (M178V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334995	NM_017772.4(TBC1D22B):c.1033C>G (p.Arg345Gly)	TBC1D22B (R345G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331934	NM_017772.4(TBC1D22B):c.569G>A (p.Arg190His)	TBC1D22B (R190H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326068	NM_017772.4(TBC1D22B):c.1334G>C (p.Cys445Ser)	TBC1D22B (C445S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313939	NM_017772.4(TBC1D22B):c.7G>T (p.Ala3Ser)	TBC1D22B, TMEM217 +1 more (A3S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2277233	NM_017772.4(TBC1D22B):c.478A>G (p.Ile160Val)	TBC1D22B (I160V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 997072	GRCh37/hg19 6p21.31-21.2(chr6:34401304-38435497)	ANKS1A, ARMC12 +49 more	Copy number loss	Severe intrauterine growth retardation	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 30