6071[HGNC] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 153288	GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1	ANKAR, ASDURF +312 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 149200	GRCh38/hg38 2q31.3-32.3(chr2:181758701-192015392)x1	ANKAR, ASDURF +191 more	Copy number loss	See cases	GPathogenic
Select item 146616	GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1	ANKAR, ANKRD44 +329 more	Copy number loss	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	AAMP, ABCA12 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 3286070	NM_001128928.2(INPP1):c.52A>G (p.Ile18Val)	INPP1, LOC129935252 (I18V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286064	NM_001128928.2(INPP1):c.56C>T (p.Ala19Val)	INPP1, LOC129935252 (A19V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 619168	NM_001128928.2(INPP1):c.70del (p.Gln24fs)	INPP1, LOC129935252 (Q24fs)	Deletion (frameshift variant)	Retinal disorder +1 more	GUncertain significance
Select item 773848	NM_001128928.2(INPP1):c.99C>T (p.Ile33=)	INPP1, LOC129935252	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3109781	NM_001128928.2(INPP1):c.151A>T (p.Thr51Ser)	INPP1, LOC129935252 (T51S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328416	NM_001128928.2(INPP1):c.300G>T (p.Glu100Asp)	INPP1 (E100D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286072	NM_001128928.2(INPP1):c.419A>G (p.Glu140Gly)	INPP1 (E140G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208901	NM_001128928.2(INPP1):c.425A>G (p.Asn142Ser)	INPP1 (N142S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3286071	NM_001128928.2(INPP1):c.440T>C (p.Ile147Thr)	INPP1 (I147T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109782	NM_001128928.2(INPP1):c.580G>A (p.Gly194Arg)	INPP1 (G194R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109783	NM_001128928.2(INPP1):c.586C>T (p.Pro196Ser)	INPP1 (P196S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488349	NM_001128928.2(INPP1):c.662G>C (p.Trp221Ser)	INPP1 (W221S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509519	NM_001128928.2(INPP1):c.689T>C (p.Met230Thr)	INPP1 (M230T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286069	NM_001128928.2(INPP1):c.724G>A (p.Gly242Ser)	INPP1 (G242S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3109784	NM_001128928.2(INPP1):c.763G>T (p.Ala255Ser)	INPP1 (A255S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475313	NM_001128928.2(INPP1):c.845A>C (p.Asp282Ala)	INPP1 (D282A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292374	NM_001128928.2(INPP1):c.880A>C (p.Ser294Arg)	INPP1 (S294R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362828	NM_001128928.2(INPP1):c.940A>C (p.Lys314Gln)	INPP1 (K314Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328127	NM_001128928.2(INPP1):c.1011C>G (p.Cys337Trp)	INPP1 (C337W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563212	NM_001128928.2(INPP1):c.1050G>T (p.Gln350His)	INPP1 (Q350H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2424635	NC_000002.11:g.(?_189839216)_(192012929_?)dup	ANKAR, ASNSD1 +17 more	Duplication	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency +2 more	GUncertain significance
Select item 1808483	GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1	ABI2, ADAM23 +107 more	Copy number loss	not provided	GPathogenic
Select item 1807826	GRCh37/hg19 2q32.1-33.1(chr2:187152754-199960525)x1	ANKAR, ANKRD44 +48 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 979391	GRCh37/hg19 2q32.1-33.1(chr2:188294864-197731939)x3	ANKAR, ASNSD1 +34 more	Copy number gain	not provided	GLikely pathogenic
Select item 977790	GRCh37/hg19 2q32.2-33.1(chr2:190345272-200212289)	OSGEPL1, STAT4 +38 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 814347	GRCh37/hg19 2q31.1-32.3(chr2:174690039-195521582)x1	AGPS, ANKAR +86 more	Copy number loss	not provided	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 687517	GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	ABCB11, AGPS +125 more	Copy number loss	not provided	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 252975	GRCh37/hg19 2q31.1-32.3(chr2:177315153-196375520)x1	AGPS, ANKAR +62 more	Copy number loss	See cases	GPathogenic

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Items: 48