13390[HGNC] - ClinVar

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Items: 64

	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 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 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 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 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146015	GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1	ABI2, ALS2 +279 more	Copy number loss	See cases	GPathogenic
Select item 146362	GRCh38/hg38 2q33.1(chr2:197400023-202089348)x1	ALS2, AOX1 +145 more	Copy number loss	See cases	GLikely pathogenic
Select item 147402	GRCh38/hg38 2q33.1(chr2:198767347-202353840)x1	ALS2, AOX1 +117 more	Copy number loss	See cases	GPathogenic
Select item 155234	GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1	ABI2, ADAM23 +298 more	Copy number loss	See cases	GPathogenic
Select item 152538	GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1	ABI2, ADAM23 +293 more	Copy number loss	See cases	GPathogenic
Select item 147739	GRCh38/hg38 2q33.1(chr2:200346708-201156417)x1	AOX1, BZW1 +45 more	Copy number loss	See cases	GPathogenic
Select item 720553	NM_001369441.2(NIF3L1):c.9A>G (p.Ser3=)	NIF3L1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2214449	NM_001369441.2(NIF3L1):c.16G>A (p.Val6Ile)	NIF3L1 (V6I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461189	NM_001369441.2(NIF3L1):c.32C>T (p.Thr11Met)	NIF3L1 (T11M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363177	NM_001369441.2(NIF3L1):c.41G>A (p.Arg14Gln)	NIF3L1 (R14Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2592159	NM_001369441.2(NIF3L1):c.73C>T (p.Arg25Cys)	NIF3L1 (R25C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2256589	NM_001369441.2(NIF3L1):c.110T>C (p.Leu37Ser)	NIF3L1 (L10S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226025	NM_001369441.2(NIF3L1):c.206T>C (p.Leu69Pro)	NIF3L1 (L42P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623721	NM_001369441.2(NIF3L1):c.261C>A (p.Asp87Glu)	NIF3L1 (D87E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299729	NM_001369441.2(NIF3L1):c.281C>T (p.Pro94Leu)	NIF3L1 (P94L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514793	NM_001369441.2(NIF3L1):c.286A>G (p.Ile96Val)	NIF3L1 (I96V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299730	NM_001369441.2(NIF3L1):c.293G>A (p.Arg98Gln)	NIF3L1 (R71Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522799	NM_001369441.2(NIF3L1):c.305G>A (p.Arg102His)	NIF3L1 (R102H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2515719	NM_001369441.2(NIF3L1):c.337G>C (p.Val113Leu)	NIF3L1 (V113L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200054	NM_001369441.2(NIF3L1):c.344G>A (p.Arg115Gln)	NIF3L1 (R115Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2337422	NM_001369441.2(NIF3L1):c.376C>G (p.Pro126Ala)	NIF3L1 (P126A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200055	NM_001369441.2(NIF3L1):c.383C>T (p.Thr128Ile)	NIF3L1 (T101I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200056	NM_001369441.2(NIF3L1):c.407G>A (p.Gly136Asp)	NIF3L1 (G109D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200057	NM_001369441.2(NIF3L1):c.470A>G (p.Lys157Arg)	NIF3L1 (K130R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360563	NM_001369441.2(NIF3L1):c.480C>G (p.Asn160Lys)	NIF3L1 (N160K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345403	NM_001369441.2(NIF3L1):c.653T>G (p.Leu218Trp)	NIF3L1 (L218W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526694	NM_001369441.2(NIF3L1):c.679C>T (p.Arg227Trp)	NIF3L1 (R200W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378508	NM_001369441.2(NIF3L1):c.727C>T (p.Pro243Ser)	NIF3L1 (P216S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317641	NM_001369441.2(NIF3L1):c.797T>C (p.Ile266Thr)	NIF3L1 (I239T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200058	NM_001369441.2(NIF3L1):c.803G>A (p.Arg268Gln)	NIF3L1 (R241Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263029	NM_001369441.2(NIF3L1):c.869C>G (p.Ser290Cys)	NIF3L1 (S290C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511287	NM_001369441.2(NIF3L1):c.883G>A (p.Val295Met)	NIF3L1 (V295M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3200059	NM_001369441.2(NIF3L1):c.911G>T (p.Ser304Ile)	NIF3L1 (A258S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299732	NM_001369441.2(NIF3L1):c.951T>C (p.Gly317=)	NIF3L1 (V271A)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3299731	NM_001369441.2(NIF3L1):c.1018A>C (p.Ser340Arg)	NIF3L1 (S340R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557126	NM_001369441.2(NIF3L1):c.1052G>A (p.Arg351Gln)	NIF3L1 (R351Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596416	NM_001369441.2(NIF3L1):c.1058T>A (p.Met353Lys)	NIF3L1 (M326K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062594	GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	ABI2, ACADL +95 more	Copy number loss	not specified	GPathogenic
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 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 1526943	GRCh37/hg19 2q33.1-34(chr2:200851079-209054267)	ABI2, ADAM23 +58 more	Copy number loss	not specified	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 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 813263	Single allele	ABI2, ALS2 +35 more	Deletion	Pulmonary arterial hypertension	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 562673	GRCh37/hg19 2q32.3-33.1(chr2:193537927-202027736)x1	HSPD1, DNAH7 +34 more	Copy number loss	not provided	GPathogenic
Select item 562557	GRCh37/hg19 2q33.1(chr2:201762531-202028909)x3	NIF3L1, NDUFB3 +3 more	Copy number gain	not provided	GUncertain significance
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 253679	GRCh37/hg19 2q33.1(chr2:200776457-203070949)x3	ALS2, AOX1 +25 more	Copy number gain	See cases	GUncertain significance
Select item 221794	GRCh37/hg19 2q33.1(chr2:200250898-201845999)x3	NIF3L1, KCTD18 +13 more	Copy number gain	Premature ovarian failure	GUncertain significance

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Items: 64