IQCK[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +851 more	Copy number gain	See cases	GPathogenic
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	ABCC1, ABCC6 +400 more	Copy number gain	See cases	GPathogenic
Select item 732901	NM_153208.3(IQCK):c.1A>C (p.Met1Leu)	IQCK, LOC130058599 (M1L)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GBenign
Select item 2269484	NM_153208.3(IQCK):c.14G>A (p.Arg5Gln)	IQCK, LOC130058599 (R5Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2468902	NM_153208.3(IQCK):c.35T>C (p.Val12Ala)	IQCK, LOC130058599 (V12A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3110496	NM_153208.3(IQCK):c.49A>C (p.Ser17Arg)	IQCK, LOC130058599 (S17R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2243213	NM_153208.3(IQCK):c.92C>T (p.Thr31Ile)	IQCK, LOC130058599 (T31I)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2374143	NM_153208.3(IQCK):c.245C>T (p.Thr82Met)	IQCK (T82M)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3110494	NM_153208.3(IQCK):c.251C>T (p.Ala84Val)	IQCK (A84V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2590559	NM_153208.3(IQCK):c.302C>T (p.Pro101Leu)	IQCK (P13L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601834	NM_153208.3(IQCK):c.329G>T (p.Arg110Leu)	IQCK (R110L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367721	NM_153208.3(IQCK):c.329G>A (p.Arg110His)	IQCK (R110H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2532784	NM_153208.3(IQCK):c.335C>A (p.Pro112His)	IQCK (P24H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299258	NM_153208.3(IQCK):c.338G>A (p.Cys113Tyr)	IQCK (C25Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612490	NM_153208.3(IQCK):c.377G>T (p.Cys126Phe)	IQCK (C126F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323090	NM_153208.3(IQCK):c.386A>G (p.Lys129Arg)	IQCK (K41R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110495	NM_153208.3(IQCK):c.406A>G (p.Ile136Val)	IQCK (I136V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596295	NM_153208.3(IQCK):c.427G>A (p.Gly143Arg)	IQCK (G143R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 791060	NM_153208.3(IQCK):c.574A>C (p.Ile192Leu)	IQCK, LOC105371115 (I192L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2358368	NM_153208.3(IQCK):c.611G>A (p.Arg204Gln)	IQCK (R204Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2457233	NM_153208.3(IQCK):c.623C>T (p.Pro208Leu)	IQCK (P182L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2216040	NM_153208.3(IQCK):c.629C>T (p.Ser210Leu)	IQCK (S184L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2553598	NM_153208.3(IQCK):c.656C>T (p.Ala219Val)	IQCK (A193V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2223006	NM_153208.3(IQCK):c.722G>A (p.Arg241His)	IQCK (V213I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249117	NM_153208.3(IQCK):c.742C>T (p.Arg248Cys)	IQCK (R222C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2618393	NM_153208.3(IQCK):c.844A>T (p.Met282Leu)	IQCK (M256L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2684798	GRCh37/hg19 16p12.3(chr16:19046826-19831178)x3	CCP110, CLEC19A +9 more	Copy number gain	not provided	GUncertain significance
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 443422	GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3	ACSM1, ACSM2A +128 more	Copy number gain	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	AARS1, ABCC1 +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 395601	GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3	ACSM1, ACSM2A +119 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	DPEP2, DPEP3 +811 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ITGAM, NPIPA3 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 221513	GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)x3	ACSM1, ACSM2A +95 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic

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Items: 42