ClinVar for Gene (Select 28968) - ClinVar

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Links from Gene

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248486	NC_000019.9:g.(?_49713446)_(50413064_?)dup	MED25, RRAS +35 more	Duplication	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 3165408	NM_014037.3(SLC6A16):c.992C>T (p.Ser331Leu)	SLC6A16 (S331L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165407	NM_014037.3(SLC6A16):c.955A>G (p.Lys319Glu)	SLC6A16 (K319E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165405	NM_014037.3(SLC6A16):c.738C>G (p.Phe246Leu)	SLC6A16 (F246L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165404	NM_014037.3(SLC6A16):c.721A>G (p.Thr241Ala)	SLC6A16 (T241A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3165402	NM_014037.3(SLC6A16):c.502C>T (p.Arg168Cys)	SLC6A16 (R168C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165401	NM_014037.3(SLC6A16):c.460G>A (p.Val154Ile)	SLC6A16 (V154I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3165400	NM_014037.3(SLC6A16):c.374G>T (p.Cys125Phe)	SLC6A16 (C125F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165399	NM_014037.3(SLC6A16):c.279G>C (p.Glu93Asp)	SLC6A16 (E93D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165398	NM_014037.3(SLC6A16):c.2044C>T (p.Arg682Cys)	SLC6A16 (R682C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165397	NM_014037.3(SLC6A16):c.1958G>A (p.Arg653Gln)	SLC6A16 (R653Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165396	NM_014037.3(SLC6A16):c.1328A>G (p.Asn443Ser)	SLC6A16 (N443S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165395	NM_014037.3(SLC6A16):c.1327A>G (p.Asn443Asp)	SLC6A16 (N443D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165394	NM_014037.3(SLC6A16):c.1091T>C (p.Met364Thr)	SLC6A16 (M364T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140576	NM_001774.3(CD37):c.841C>T (p.Arg281Cys)	CD37, SLC6A16 (R213C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3140575	NM_001774.3(CD37):c.367G>T (p.Val123Leu)	CD37, SLC6A16 (V55L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 2622304	NM_014037.3(SLC6A16):c.2073G>C (p.Lys691Asn)	SLC6A16 (K691N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602418	NM_014037.3(SLC6A16):c.2077G>A (p.Gly693Arg)	SLC6A16 (G693R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2553870	NM_014037.3(SLC6A16):c.1007T>C (p.Met336Thr)	SLC6A16 (M336T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524657	NM_014037.3(SLC6A16):c.732A>G (p.Ile244Met)	SLC6A16 (I244M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2518392	NM_014037.3(SLC6A16):c.311C>T (p.Pro104Leu)	SLC6A16 (P104L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494892	NM_014037.3(SLC6A16):c.852C>G (p.Ile284Met)	SLC6A16 (I284M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484006	NM_014037.3(SLC6A16):c.812C>T (p.Pro271Leu)	SLC6A16 (P271L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480435	NM_001774.3(CD37):c.173C>A (p.Ser58Tyr)	CD37, SLC6A16 (S58Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2480263	NM_014037.3(SLC6A16):c.14C>T (p.Ala5Val)	SLC6A16 (A5V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477445	NM_001774.3(CD37):c.638G>A (p.Ser213Asn)	CD37, SLC6A16 (S213N +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2456065	NM_014037.3(SLC6A16):c.854A>G (p.Asn285Ser)	SLC6A16 (N285S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407916	NM_001774.3(CD37):c.740G>T (p.Gly247Val)	CD37, SLC6A16 (G247V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400774	NM_014037.3(SLC6A16):c.1069G>A (p.Val357Ile)	SLC6A16 (V357I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2400507	NM_014037.3(SLC6A16):c.1468T>C (p.Phe490Leu)	SLC6A16 (F490L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395772	NM_014037.3(SLC6A16):c.2091G>A (p.Met697Ile)	SLC6A16 (M697I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2389806	NM_001774.3(CD37):c.825C>A (p.Asn275Lys)	CD37, SLC6A16 (N275K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371654	NM_014037.3(SLC6A16):c.848T>A (p.Met283Lys)	SLC6A16 (M283K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370241	NM_014037.3(SLC6A16):c.1271T>C (p.Leu424Pro)	SLC6A16 (L424P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368989	NM_014037.3(SLC6A16):c.602A>G (p.Asn201Ser)	SLC6A16 (N201S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363743	NM_014037.3(SLC6A16):c.307C>T (p.Arg103Cys)	SLC6A16 (R103C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358972	NM_014037.3(SLC6A16):c.66T>G (p.Ile22Met)	SLC6A16 (I22M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342597	NM_014037.3(SLC6A16):c.1375C>T (p.Arg459Cys)	SLC6A16 (R459C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332833	NM_014037.3(SLC6A16):c.1682T>C (p.Phe561Ser)	SLC6A16 (F561S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318413	NM_014037.3(SLC6A16):c.320C>G (p.Ser107Cys)	SLC6A16 (S107C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308929	NM_014037.3(SLC6A16):c.2062T>C (p.Phe688Leu)	SLC6A16 (F688L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289466	NM_014037.3(SLC6A16):c.61G>T (p.Val21Leu)	SLC6A16 (V21L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286456	NM_014037.3(SLC6A16):c.514A>G (p.Met172Val)	SLC6A16 (M172V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274644	NM_001774.3(CD37):c.508A>G (p.Asn170Asp)	CD37, SLC6A16 (N102D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265671	NM_014037.3(SLC6A16):c.1550T>C (p.Met517Thr)	SLC6A16 (M517T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265000	NM_014037.3(SLC6A16):c.1556G>T (p.Gly519Val)	SLC6A16 (G519V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263962	NM_014037.3(SLC6A16):c.424G>A (p.Ala142Thr)	SLC6A16 (A142T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253505	NM_014037.3(SLC6A16):c.1426G>A (p.Gly476Ser)	SLC6A16 (G476S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238057	NM_014037.3(SLC6A16):c.509G>A (p.Gly170Asp)	SLC6A16 (G170D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229147	NM_014037.3(SLC6A16):c.1996C>A (p.Leu666Ile)	SLC6A16 (L666I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1346497	NC_000019.9:g.(?_49519325)_(50366015_?)dup	CGB7, CGB8 +45 more	Duplication	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	FLT3LG, FPR1 +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	FUZ, GARIN5A +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	CLDND2, IGSF23 +293 more	Copy number gain	not provided	GPathogenic
Select item 789460	NM_001774.3(CD37):c.132G>C (p.Val44=)	CD37, SLC6A16	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 736419	NM_001774.3(CD37):c.364G>A (p.Val122Ile)	CD37, SLC6A16 (V54I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 714892	NM_001774.3(CD37):c.685-7C>T	CD37, SLC6A16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 686542	GRCh37/hg19 19q13.33(chr19:49600909-51366070)x3	C19orf81, CD37 +66 more	Copy number gain	not provided	GUncertain significance
Select item 564587	GRCh37/hg19 19q13.33(chr19:49645600-49891280)x3	TRPM4, CD37 +5 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 65