1137[HGNC] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 144210	GRCh38/hg38 6p22.2-22.1(chr6:26280579-28727313)x3	ABT1, BTN1A1 +344 more	Copy number gain	See cases	GUncertain significance
Select item 790029	NM_006995.5(BTN2A2):c.11C>T (p.Ala4Val)	BTN2A2 (A4V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2489858	NM_006995.5(BTN2A2):c.13G>A (p.Ala5Thr)	BTN2A2 (A5T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538881	NM_006995.5(BTN2A2):c.43C>T (p.Leu15Phe)	BTN2A2 (L15F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207818	NM_006995.5(BTN2A2):c.47T>C (p.Leu16Pro)	BTN2A2 (L16P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057121	NM_006995.5(BTN2A2):c.57G>A (p.Leu19=)	BTN2A2	Single nucleotide variant (synonymous variant)	BTN2A2-related disorder	GBenign
Select item 3135514	NM_006995.5(BTN2A2):c.112G>T (p.Gly38Trp)	BTN2A2 (G38W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135517	NM_006995.5(BTN2A2):c.115C>A (p.Pro39Thr)	BTN2A2 (P39T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 790030	NM_006995.5(BTN2A2):c.115C>G (p.Pro39Ala)	BTN2A2 (P39A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2291745	NM_006995.5(BTN2A2):c.143G>T (p.Gly48Val)	BTN2A2 (G48V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135519	NM_006995.5(BTN2A2):c.178G>A (p.Glu60Lys)	BTN2A2 (E60K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135520	NM_006995.5(BTN2A2):c.185A>C (p.Asn62Thr)	BTN2A2 (N62T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316942	NM_006995.5(BTN2A2):c.206G>A (p.Arg69Gln)	BTN2A2 (R69Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335672	NM_006995.5(BTN2A2):c.232G>A (p.Ala78Thr)	BTN2A2 (A78T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383362	NM_006995.5(BTN2A2):c.311G>T (p.Ser104Ile)	BTN2A2 (S104I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3049587	NM_006995.5(BTN2A2):c.354C>T (p.Asn118=)	BTN2A2	Single nucleotide variant (synonymous variant +1 more)	BTN2A2-related disorder	GLikely benign
Select item 3135521	NM_006995.5(BTN2A2):c.359C>T (p.Thr120Ile)	BTN2A2 (T120I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339934	NM_006995.5(BTN2A2):c.382C>T (p.Arg128Cys)	BTN2A2 (R128C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258813	NM_006995.5(BTN2A2):c.397G>A (p.Glu133Lys)	BTN2A2 (E133K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3057855	NM_006995.5(BTN2A2):c.411C>T (p.Tyr137=)	BTN2A2	Single nucleotide variant (synonymous variant +1 more)	BTN2A2-related disorder	GLikely benign
Select item 2540536	NM_006995.5(BTN2A2):c.427C>T (p.Arg143Cys)	BTN2A2 (R143C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473843	NM_006995.5(BTN2A2):c.430C>A (p.Leu144Ile)	BTN2A2 (L144I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3034603	NM_006995.5(BTN2A2):c.443-8C>G	BTN2A2	Single nucleotide variant (intron variant)	BTN2A2-related disorder	GLikely benign
Select item 3135523	NM_006995.5(BTN2A2):c.559G>A (p.Gly187Ser)	BTN2A2 (G187S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3051820	NM_006995.5(BTN2A2):c.574G>T (p.Ala192Ser)	BTN2A2 (A192S +1 more)	Single nucleotide variant (missense variant +1 more)	BTN2A2-related disorder	GLikely benign
Select item 3057059	NM_006995.5(BTN2A2):c.607G>A (p.Gly203Ser)	BTN2A2 (G203S +1 more)	Single nucleotide variant (missense variant +1 more)	BTN2A2-related disorder	GBenign
Select item 3052058	NM_006995.5(BTN2A2):c.627A>G (p.Thr209=)	BTN2A2	Single nucleotide variant (synonymous variant +1 more)	BTN2A2-related disorder	GLikely benign
Select item 3135524	NM_006995.5(BTN2A2):c.665C>A (p.Ser222Tyr)	BTN2A2 (S222Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391620	NM_006995.5(BTN2A2):c.691G>A (p.Gly231Ser)	BTN2A2 (G231S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3262058	NM_006995.5(BTN2A2):c.733A>T (p.Met245Leu)	BTN2A2 (M129L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135525	NM_006995.5(BTN2A2):c.760G>A (p.Ala254Thr)	BTN2A2 (A160T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048777	NM_006995.5(BTN2A2):c.780C>T (p.Thr260=)	BTN2A2	Single nucleotide variant (synonymous variant)	BTN2A2-related disorder	GLikely benign
Select item 720365	NM_006995.5(BTN2A2):c.799T>G (p.Ser267Ala)	BTN2A2 (S151A +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2603499	NM_006995.5(BTN2A2):c.825C>A (p.Phe275Leu)	BTN2A2 (F159L +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3135526	NM_006995.5(BTN2A2):c.845G>A (p.Ser282Asn)	BTN2A2 (S166N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3034729	NM_006995.5(BTN2A2):c.932-3C>T	BTN2A2	Single nucleotide variant (intron variant)	BTN2A2-related disorder	GLikely benign
Select item 3059309	NM_006995.5(BTN2A2):c.980-88G>C	BTN2A2 (A255P)	Single nucleotide variant (missense variant +1 more)	BTN2A2-related disorder	GBenign
Select item 2389200	NM_006995.5(BTN2A2):c.980C>T (p.Ala327Val)	BTN2A2 (A211V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3135513	NM_006995.5(BTN2A2):c.1003A>G (p.Thr335Ala)	BTN2A2 (T219A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3056488	NM_006995.5(BTN2A2):c.1006G>A (p.Ala336Thr)	BTN2A2 (A126T +2 more)	Single nucleotide variant (missense variant +2 more)	BTN2A2-related disorder	GBenign
Select item 2351381	NM_006995.5(BTN2A2):c.1015G>A (p.Glu339Lys)	BTN2A2 (E223K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2226308	NM_006995.5(BTN2A2):c.1052G>A (p.Arg351Gln)	BTN2A2 (R351Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3039298	NM_006995.5(BTN2A2):c.1095C>T (p.Phe365=)	BTN2A2	Single nucleotide variant (synonymous variant +2 more)	BTN2A2-related disorder	GLikely benign
Select item 3135515	NM_006995.5(BTN2A2):c.1132G>A (p.Ala378Thr)	BTN2A2 (A262T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2292639	NM_006995.5(BTN2A2):c.1144C>G (p.His382Asp)	BTN2A2 (H266D +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2316904	NM_006995.5(BTN2A2):c.1152G>C (p.Trp384Cys)	BTN2A2 (W174C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2383977	NM_006995.5(BTN2A2):c.1176G>T (p.Met392Ile)	BTN2A2 (M182I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2383907	NM_006995.5(BTN2A2):c.1178T>A (p.Val393Glu)	BTN2A2 (V183E +2 more)	Single nucleotide variant (intron variant +2 more)	not specified	GUncertain significance
Select item 3040420	NM_006995.5(BTN2A2):c.1201C>G (p.His401Asp)	BTN2A2 (H191D +2 more)	Single nucleotide variant (missense variant +2 more)	BTN2A2-related disorder	GLikely benign
Select item 782472	NM_006995.5(BTN2A2):c.1282C>T (p.Arg428Trp)	BTN2A2 (R218W +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2238434	NM_006995.5(BTN2A2):c.1288C>G (p.Leu430Val)	BTN2A2 (L220V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2612383	NM_006995.5(BTN2A2):c.1334G>C (p.Arg445Pro)	BTN2A2 (R329P +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2378234	NM_006995.5(BTN2A2):c.1361C>T (p.Ala454Val)	BTN2A2 (A244V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3038857	NM_006995.5(BTN2A2):c.1379A>G (p.Tyr460Cys)	BTN2A2 (Y250C +2 more)	Single nucleotide variant (missense variant +2 more)	BTN2A2-related disorder	GBenign
Select item 2319339	NM_006995.5(BTN2A2):c.1382A>T (p.Asn461Ile)	BTN2A2 (N251I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3059725	NM_006995.5(BTN2A2):c.1398G>A (p.Ser466=)	BTN2A2	Single nucleotide variant (synonymous variant +2 more)	BTN2A2-related disorder	GBenign
Select item 3135518	NM_006995.5(BTN2A2):c.1429A>T (p.Thr477Ser)	BTN2A2 (T477S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 778227	NM_006995.5(BTN2A2):c.1435C>T (p.Pro479Ser)	BTN2A2 (P269S +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2496306	NM_006995.5(BTN2A2):c.1484T>C (p.Ile495Thr)	BTN2A2 (I285T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3046598	NM_006995.5(BTN2A2):c.1517T>C (p.Met506Thr)	BTN2A2 (M296T +2 more)	Single nucleotide variant (missense variant +2 more)	BTN2A2-related disorder	GLikely benign
Select item 2454750	NM_006995.5(BTN2A2):c.1525G>A (p.Glu509Lys)	BTN2A2 (E393K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 790031	NM_006995.5(BTN2A2):c.1538A>C (p.Lys513Thr)	BTN2A2 (K397T +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 1527230	GRCh37/hg19 6p22.2(chr6:25839165-26536884)	BTN2A1, BTN2A2 +42 more	Copy number gain	not specified	GUncertain significance
Select item 979706	GRCh37/hg19 6p22.2(chr6:26046566-26670193)x3	H2BC7, H2BC8 +34 more	Copy number gain	not provided	GUncertain significance
Select item 979555	GRCh37/hg19 6p22.2(chr6:26345595-26601092)x3	BTN3A3, BTN2A2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 814805	GRCh37/hg19 6p22.2(chr6:26256525-26536884)x3	TRX-CAT1-2, BTN3A1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 688965	GRCh37/hg19 6p22.2(chr6:26366119-26444945)x1	BTN2A2, BTN3A1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 688552	GRCh37/hg19 6p22.2(chr6:26366119-26444946)x1	BTN2A2, BTN3A1 +2 more	Copy number loss	not provided	GUncertain significance
Select item 563168	GRCh37/hg19 6p22.2(chr6:26178542-26670193)x3	H2BC6, H3C4 +26 more	Copy number gain	not provided	GUncertain significance
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

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Items: 73