1135[HGNC] - ClinVar

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Items: 38

	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 3135490	NM_001732.3(BTN1A1):c.13C>T (p.Pro5Ser)	BTN1A1 (P5S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262050	NM_001732.3(BTN1A1):c.16A>G (p.Ser6Gly)	BTN1A1 (S6G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247991	NM_001732.3(BTN1A1):c.50T>C (p.Ile17Thr)	BTN1A1 (I17T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615672	NM_001732.3(BTN1A1):c.169A>T (p.Ser57Cys)	BTN1A1, LOC129996064 (S57C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223604	NM_001732.3(BTN1A1):c.182T>C (p.Leu61Ser)	BTN1A1, LOC129996064 (L61S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362436	NM_001732.3(BTN1A1):c.205A>G (p.Lys69Glu)	BTN1A1, LOC129996064 (K69E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603952	NM_001732.3(BTN1A1):c.239G>C (p.Gly80Ala)	BTN1A1 (G80A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374656	NM_001732.3(BTN1A1):c.314G>C (p.Gly105Ala)	BTN1A1 (G105A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247532	NM_001732.3(BTN1A1):c.420G>T (p.Lys140Asn)	BTN1A1 (K140N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289527	NM_001732.3(BTN1A1):c.497C>T (p.Ser166Leu)	BTN1A1 (S166L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467513	NM_001732.3(BTN1A1):c.512C>G (p.Pro171Arg)	BTN1A1 (P171R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350407	NM_001732.3(BTN1A1):c.545G>C (p.Gly182Ala)	BTN1A1 (G182A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135493	NM_001732.3(BTN1A1):c.626G>T (p.Arg209Ile)	BTN1A1 (R209I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262047	NM_001732.3(BTN1A1):c.638C>T (p.Ala213Val)	BTN1A1 (A213V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3262049	NM_001732.3(BTN1A1):c.736T>A (p.Trp246Arg)	BTN1A1 (W246R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244618	NM_001732.3(BTN1A1):c.764T>C (p.Met255Thr)	BTN1A1 (M255T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246736	NM_001732.3(BTN1A1):c.785T>C (p.Ile262Thr)	BTN1A1 (I262T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135494	NM_001732.3(BTN1A1):c.815A>G (p.Tyr272Cys)	BTN1A1 (Y272C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262048	NM_001732.3(BTN1A1):c.836G>A (p.Arg279Lys)	BTN1A1 (R279K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778886	NM_001732.3(BTN1A1):c.876A>C (p.Glu292Asp)	BTN1A1 (E292D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 784632	NM_001732.3(BTN1A1):c.882A>G (p.Lys294=)	BTN1A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3135487	NM_001732.3(BTN1A1):c.1048C>T (p.Arg350Cys)	BTN1A1 (R350C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135488	NM_001732.3(BTN1A1):c.1102A>G (p.Thr368Ala)	BTN1A1 (T368A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135489	NM_001732.3(BTN1A1):c.1252C>A (p.Pro418Thr)	BTN1A1 (P418T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390531	NM_001732.3(BTN1A1):c.1346A>G (p.Asn449Ser)	BTN1A1 (N449S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135491	NM_001732.3(BTN1A1):c.1496C>T (p.Pro499Leu)	BTN1A1 (P499L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135492	NM_001732.3(BTN1A1):c.1564A>T (p.Ser522Cys)	BTN1A1 (S522C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789587	NM_001732.3(BTN1A1):c.1571G>A (p.Gly524Glu)	BTN1A1 (G524E)	Single nucleotide variant (missense variant)	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 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: 38