17853[HGNC] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154460	GRCh38/hg38 6q12-14.2(chr6:64549655-83426791)x1	ADGRB3, ADGRB3-DT +310 more	Copy number loss	See cases	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155438	GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1	AKIRIN2, ANKRD6 +299 more	Copy number loss	See cases	GPathogenic
Select item 2594577	NM_015525.4(IBTK):c.3992A>C (p.Glu1331Ala)	IBTK (E1331A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473884	NM_015525.4(IBTK):c.3932T>C (p.Ile1311Thr)	IBTK (I1296T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240767	NM_015525.4(IBTK):c.3919G>C (p.Ala1307Pro)	IBTK (A1292P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107866	NM_015525.4(IBTK):c.3842C>T (p.Pro1281Leu)	IBTK (P1281L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2587956	NM_015525.4(IBTK):c.3830C>T (p.Ser1277Phe)	IBTK (S1277F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107865	NM_015525.4(IBTK):c.3805C>A (p.Leu1269Ile)	IBTK (L1269I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283240	NM_015525.4(IBTK):c.3766A>G (p.Ile1256Val)	IBTK (I1241V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540410	NM_015525.4(IBTK):c.3692G>C (p.Gly1231Ala)	IBTK (G1231A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483987	NM_015525.4(IBTK):c.3662G>C (p.Gly1221Ala)	IBTK (G1206A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410574	NM_015525.4(IBTK):c.3635A>G (p.Lys1212Arg)	IBTK (K1212R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161695	NM_015525.4(IBTK):c.3506A>T (p.Asn1169Ile)	IBTK (N1169I +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2351819	NM_015525.4(IBTK):c.3503A>G (p.Asn1168Ser)	IBTK (N1153S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285155	NM_015525.4(IBTK):c.3449G>T (p.Gly1150Val)	IBTK (G1135V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285154	NM_015525.4(IBTK):c.3448G>C (p.Gly1150Arg)	IBTK (G1135R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296091	NM_015525.4(IBTK):c.3446A>G (p.His1149Arg)	IBTK (H1134R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790580	NM_015525.4(IBTK):c.3421T>A (p.Ser1141Thr)	IBTK (S1141T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2483034	NM_015525.4(IBTK):c.3403T>G (p.Cys1135Gly)	IBTK (C1135G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773199	NM_015525.4(IBTK):c.3339-10T>C	IBTK	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2234541	NM_015525.4(IBTK):c.3329G>A (p.Gly1110Asp)	IBTK (G1110D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489323	NM_015525.4(IBTK):c.3278C>G (p.Pro1093Arg)	IBTK (P1078R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559242	NM_015525.4(IBTK):c.3227A>G (p.Asp1076Gly)	IBTK (D1061G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107863	NM_015525.4(IBTK):c.2984G>T (p.Gly995Val)	IBTK (G995V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283685	NM_015525.4(IBTK):c.2966G>A (p.Arg989His)	IBTK (R989H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107862	NM_015525.4(IBTK):c.2965C>T (p.Arg989Cys)	IBTK (R989C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107861	NM_015525.4(IBTK):c.2959C>T (p.Arg987Cys)	IBTK (R987C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268330	NM_015525.4(IBTK):c.2908C>A (p.His970Asn)	IBTK (H970N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251059	NM_015525.4(IBTK):c.2875T>C (p.Phe959Leu)	IBTK (F959L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285153	NM_015525.4(IBTK):c.2861A>G (p.Glu954Gly)	IBTK (E954G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107860	NM_015525.4(IBTK):c.2783G>A (p.Arg928Gln)	IBTK (R928Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456371	NM_015525.4(IBTK):c.2749G>A (p.Asp917Asn)	IBTK (D917N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324141	NM_015525.4(IBTK):c.2680T>G (p.Ser894Ala)	IBTK (S894A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410549	NM_015525.4(IBTK):c.2573G>A (p.Arg858Gln)	IBTK (R858Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238219	NM_015525.4(IBTK):c.2573G>T (p.Arg858Leu)	IBTK (R858L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509449	NM_015525.4(IBTK):c.2545G>A (p.Val849Met)	IBTK (V849M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265322	NM_015525.4(IBTK):c.2530A>T (p.Ile844Phe)	IBTK (I844F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471741	NM_015525.4(IBTK):c.2519A>T (p.Asn840Ile)	IBTK (N840I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259004	NM_015525.4(IBTK):c.2456T>C (p.Ile819Thr)	IBTK (I819T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107859	NM_015525.4(IBTK):c.2447A>G (p.His816Arg)	IBTK (H816R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247114	NM_015525.4(IBTK):c.2443A>G (p.Ile815Val)	IBTK (I815V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107858	NM_015525.4(IBTK):c.2356G>A (p.Val786Ile)	IBTK (V786I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601943	NM_015525.4(IBTK):c.2196G>C (p.Leu732Phe)	IBTK (L732F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107857	NM_015525.4(IBTK):c.1982A>G (p.Gln661Arg)	IBTK (Q661R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231692	NM_015525.4(IBTK):c.1957T>G (p.Leu653Val)	IBTK (L653V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251445	NM_015525.4(IBTK):c.1924T>A (p.Phe642Ile)	IBTK (F642I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281123	NM_015525.4(IBTK):c.1810G>A (p.Asp604Asn)	IBTK (D604N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588099	NM_015525.4(IBTK):c.1795A>G (p.Thr599Ala)	IBTK (T599A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107855	NM_015525.4(IBTK):c.1762T>A (p.Phe588Ile)	IBTK (F588I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296699	NM_015525.4(IBTK):c.1606T>A (p.Tyr536Asn)	IBTK (Y536N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107854	NM_015525.4(IBTK):c.1489G>A (p.Val497Met)	IBTK (V497M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277956	NM_015525.4(IBTK):c.1462G>A (p.Val488Met)	IBTK (V488M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323739	NM_015525.4(IBTK):c.1222A>G (p.Ile408Val)	IBTK (I408V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232804	NM_015525.4(IBTK):c.1189C>T (p.His397Tyr)	IBTK (H397Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556714	NM_015525.4(IBTK):c.1181A>G (p.Asp394Gly)	IBTK (D394G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619570	NM_015525.4(IBTK):c.1010A>G (p.His337Arg)	IBTK (H337R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307565	NM_015525.4(IBTK):c.916A>G (p.Thr306Ala)	IBTK (T306A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306117	NM_015525.4(IBTK):c.863G>A (p.Gly288Asp)	IBTK (G288D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656725	NM_015525.4(IBTK):c.660T>A (p.Pro220=)	IBTK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3107867	NM_015525.4(IBTK):c.640G>A (p.Glu214Lys)	IBTK (E214K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461506	NM_015525.4(IBTK):c.467G>A (p.Gly156Asp)	IBTK (G156D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282366	NM_015525.4(IBTK):c.302G>A (p.Cys101Tyr)	IBTK (C101Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481379	NM_015525.4(IBTK):c.83G>A (p.Gly28Glu)	IBTK (G28E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498333	GRCh37/hg19 6q14.1-14.3(chr6:82840207-86522229)x1	CEP162, CYB5R4 +18 more	Copy number loss	See cases	GPathogenic
Select item 1808487	GRCh37/hg19 6q14.1-14.2(chr6:81087736-84200632)x3	DOP1A, IBTK +6 more	Copy number gain	not provided	GUncertain significance
Select item 1711170	GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)x1	AKIRIN2, ANKRD6 +65 more	Copy number loss	See cases	GUncertain significance
Select item 1527249	GRCh37/hg19 6q12-16.1(chr6:69938252-94379210)	BACH2, ADGRB3 +88 more	Copy number gain	not specified	GPathogenic
Select item 1341189	GRCh37/hg19 6q13-14.1(chr6:72799054-83275894)x1	BCKDHB, CD109 +31 more	Copy number loss	not provided	GPathogenic
Select item 814839	GRCh37/hg19 6q14.1-14.2(chr6:82620262-84201117)x1	UBE3D, DOP1A +5 more	Copy number loss	not provided	GUncertain significance
Select item 563199	GRCh37/hg19 6q14.1-16.1(chr6:81261418-97796269)x3	AKIRIN2, ANKRD6 +56 more	Copy number gain	not provided	GPathogenic
Select item 563192	GRCh37/hg19 6q13-14.2(chr6:73674612-84829774)x1	BCKDHB, CD109 +40 more	Copy number loss	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

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Items: 74