64859[Gene ID] - ClinVar

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Items: 46

	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 3172510	NM_001031716.5(NABP1):c.14A>G (p.Asn5Ser)	NABP1 (N5S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2220024	NM_001031716.5(NABP1):c.37G>A (p.Asp13Asn)	NABP1 (D13N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3172529	NM_001031716.5(NABP1):c.41T>C (p.Ile14Thr)	NABP1 (I14T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2489149	NM_001031716.5(NABP1):c.59A>G (p.Asn20Ser)	NABP1 (N20S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2556388	NM_001031716.5(NABP1):c.94C>T (p.Arg32Cys)	NABP1 (R32C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3172546	NM_001031716.5(NABP1):c.95G>A (p.Arg32His)	NABP1 (R32H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2621851	NM_001031716.5(NABP1):c.115G>A (p.Gly39Ser)	NABP1 (G39S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3172514	NM_001031716.5(NABP1):c.281G>T (p.Gly94Val)	NABP1 (G94V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262940	NM_001031716.5(NABP1):c.313G>A (p.Val105Ile)	NABP1 (V105I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522022	NM_001031716.5(NABP1):c.376G>C (p.Gly126Arg)	NABP1 (G126R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292892	NM_001031716.5(NABP1):c.470A>G (p.Glu157Gly)	NABP1 (E157G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527956	NM_001031716.5(NABP1):c.484C>G (p.Gln162Glu)	NABP1 (Q162E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298330	NM_001031716.5(NABP1):c.514C>T (p.Arg172Trp)	NABP1 (R172W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172540	NM_001031716.5(NABP1):c.544A>G (p.Thr182Ala)	NABP1 (T102A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3172541	NM_001031716.5(NABP1):c.553A>G (p.Asn185Asp)	NABP1 (N105D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298331	NM_001031716.5(NABP1):c.592C>T (p.Pro198Ser)	NABP1 (P198S +1 more)	Single nucleotide variant (missense variant +1 more)	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 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 1340150	GRCh37/hg19 2q32.3(chr2:192323573-193027319)x1	CAVIN2, NABP1 +1 more	Copy number loss	not provided	GUncertain significance
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 979393	GRCh37/hg19 2q32.3(chr2:192323572-193027152)x1	CAVIN2, TMEFF2 +1 more	Copy number loss	not provided	GUncertain significance
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 562676	GRCh37/hg19 2q32.2-33.1(chr2:191750202-202297376)x1	ANKRD44, AOX1 +45 more	Copy number loss	not provided	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: 46