6065[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935713, LOC129935714 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	AAMP, ABCA12 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC110120629, LOC110120691 +986 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 58844	GRCh38/hg38 2q35-36.3(chr2:219081620-225430308)x1	ABCB6, ACSL3 +195 more	Copy number loss	See cases	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 3109672	NM_002191.4(INHA):c.74C>A (p.Ala25Asp)	INHA (A25D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 743499	NM_002191.4(INHA):c.129C>T (p.Pro43=)	INHA	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 3109666	NM_002191.4(INHA):c.166A>T (p.Arg56Trp)	INHA (R56W)	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 3109667	NM_002191.4(INHA):c.179G>A (p.Arg60Gln)	INHA (R60Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3057198	NM_002191.4(INHA):c.207C>T (p.His69=)	INHA	Single nucleotide variant (synonymous variant)	INHA-related disorder	GLikely benign
Select item 717829	NM_002191.4(INHA):c.327C>T (p.Gly109=)	INHA	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2299688	NM_002191.4(INHA):c.364C>T (p.Arg122Cys)	INHA (R122C)	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 3109668	NM_002191.4(INHA):c.431C>T (p.Ala144Val)	INHA (A144V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3109670	NM_002191.4(INHA):c.479G>C (p.Gly160Ala)	INHA (G160A)	Single nucleotide variant (missense variant)	not specified	GLikely 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 3109671	NM_002191.4(INHA):c.511C>T (p.His171Tyr)	INHA (H171Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3055288	NM_002191.4(INHA):c.531C>T (p.Ala177=)	INHA	Single nucleotide variant (synonymous variant)	INHA-related disorder	GBenign
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 2520341	NM_002191.4(INHA):c.596G>A (p.Arg199His)	INHA (R199H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2267682	NM_002191.4(INHA):c.703C>A (p.Pro235Thr)	INHA (P235T)	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 3053242	NM_002191.4(INHA):c.747G>A (p.Leu249=)	INHA	Single nucleotide variant (synonymous variant)	INHA-related disorder	GLikely benign
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 402979	NM_002191.4(INHA):c.769G>A (p.Ala257Thr)	INHA (A257T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
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 3109664	NM_002191.4(INHA):c.1004T>C (p.Met335Thr)	INHA (M335T)	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 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
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 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 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	PTPRN, STK11IP +23 more	Deletion	Bilateral cleft lip and palate +3 more	GPathogenic
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 61