ClinVar for Gene (Select 3623) - ClinVar

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Links from Gene

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 3109673	NM_002191.4(INHA):c.944C>T (p.Ala315Val)	INHA (A315V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3109672	NM_002191.4(INHA):c.74C>A (p.Ala25Asp)	INHA (A25D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3109671	NM_002191.4(INHA):c.511C>T (p.His171Tyr)	INHA (H171Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109670	NM_002191.4(INHA):c.479G>C (p.Gly160Ala)	INHA (G160A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3109669	NM_002191.4(INHA):c.442T>G (p.Ser148Ala)	INHA (S148A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109668	NM_002191.4(INHA):c.431C>T (p.Ala144Val)	INHA (A144V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109667	NM_002191.4(INHA):c.179G>A (p.Arg60Gln)	INHA (R60Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109666	NM_002191.4(INHA):c.166A>T (p.Arg56Trp)	INHA (R56W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109665	NM_002191.4(INHA):c.1022G>A (p.Arg341His)	INHA (R341H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109664	NM_002191.4(INHA):c.1004T>C (p.Met335Thr)	INHA (M335T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057198	NM_002191.4(INHA):c.207C>T (p.His69=)	INHA	Single nucleotide variant (synonymous variant)	INHA-related disorder	GLikely benign
Select item 3055288	NM_002191.4(INHA):c.531C>T (p.Ala177=)	INHA	Single nucleotide variant (synonymous variant)	INHA-related disorder	GBenign
Select item 3053242	NM_002191.4(INHA):c.747G>A (p.Leu249=)	INHA	Single nucleotide variant (synonymous variant)	INHA-related disorder	GLikely benign
Select item 2685878	GRCh37/hg19 2q35(chr2:220368252-221475943)x3	ASIC4, CHPF +6 more	Copy number gain	not provided	GUncertain significance
Select item 2685877	GRCh37/hg19 2q35(chr2:220169575-220625221)x3	ASIC4, CHPF +11 more	Copy number gain	not provided	GUncertain significance
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	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 2520341	NM_002191.4(INHA):c.596G>A (p.Arg199His)	INHA (R199H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2508992	NM_002191.4(INHA):c.340A>G (p.Met114Val)	INHA (M114V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2487465	NM_002191.4(INHA):c.532G>A (p.Val178Met)	INHA (V178M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466939	NM_002191.4(INHA):c.77G>A (p.Arg26Gln)	INHA (R26Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462488	NM_002191.4(INHA):c.668C>A (p.Pro223Gln)	INHA (P223Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300230	NM_002191.4(INHA):c.133G>A (p.Ala45Thr)	INHA (A45T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299688	NM_002191.4(INHA):c.364C>T (p.Arg122Cys)	INHA (R122C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284925	NM_002191.4(INHA):c.706C>G (p.Leu236Val)	INHA (L236V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280251	NM_002191.4(INHA):c.728C>G (p.Pro243Arg)	INHA (P243R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267682	NM_002191.4(INHA):c.703C>A (p.Pro235Thr)	INHA (P235T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259129	NM_002191.4(INHA):c.167G>T (p.Arg56Met)	INHA (R56M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254075	NM_002191.4(INHA):c.383C>T (p.Ser128Leu)	INHA (S128L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239091	NM_002191.4(INHA):c.758C>T (p.Pro253Leu)	INHA (P253L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1526953	GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	FBXO36, UGT1A5 +147 more	Copy number loss	not specified	GPathogenic
Select item 1526950	GRCh37/hg19 2q34-36.1(chr2:215108009-221679980)	AAMP, ABCA12 +72 more	Copy number gain	not specified	GPathogenic
Select item 1180532	GRCh37/hg19 2q35-36.3(chr2:220056891-227164817)x1	PTPRN, RESP18 +36 more	Copy number loss	not provided	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 816573	GRCh37/hg19 2q35(chr2:216883237-220953003)x3	CXCR2, FEV +65 more	Copy number gain	not provided	GPathogenic
Select item 787656	NM_002191.4(INHA):c.195G>T (p.Gly65=)	INHA	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 754643	NM_002191.4(INHA):c.498C>T (p.Pro166=)	INHA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 743499	NM_002191.4(INHA):c.129C>T (p.Pro43=)	INHA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 717829	NM_002191.4(INHA):c.327C>T (p.Gly109=)	INHA	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 562681	GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3	ABCB6, ACKR3 +183 more	Copy number gain	not provided	GPathogenic
Select item 562674	GRCh37/hg19 2q35-36.3(chr2:218813434-227450699)x1	AAMP, ABCB6 +71 more	Copy number loss	not provided	GPathogenic
Select item 549857	Single allele	ATG9A, DNPEP +23 more	Deletion	Heart, malformation of +3 more	GPathogenic
Select item 545464	NM_002191.4(INHA):c.-16C>T	INHA	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 493568	GRCh37/hg19 2q35-36.3(chr2:217374144-227643620)x1	IRS1, KCNE4 +77 more	Copy number loss	not provided	GLikely pathogenic
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 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic
Select item 402979	NM_002191.4(INHA):c.769G>A (p.Ala257Thr)	INHA (A257T)	Single nucleotide variant (missense variant)	INHA-related disorder +2 more	GBenign/Likely benign
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 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 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 149033	GRCh38/hg38 2q35(chr2:219081620-219758878)x3	ABCB6, ANKZF1 +77 more	Copy number gain	See cases	GUncertain significance
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 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 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	LOC129935343, LOC129935344 +1703 more	Copy number gain	See cases	GPathogenic
Select item 58844	GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1	ABCB6, ACSL3 +195 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

ClinVar

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Links from Gene

Items: 61