28477[HGNC] - ClinVar

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

Search results

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 150685	GRCh38/hg38 5q31.3-32(chr5:141089988-149530678)x3	ABLIM3, ADRB2 +313 more	Copy number gain	See cases	GPathogenic
Select item 2566742	NM_024028.4(PCYOX1L):c.11C>T (p.Ala4Val)	LOC121099708, LOC129994954 +1 more (A4V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2363666	NM_024028.4(PCYOX1L):c.17C>A (p.Pro6Gln)	LOC121099708, LOC129994954 +1 more (P6Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2302570	NM_024028.4(PCYOX1L):c.20T>A (p.Leu7Gln)	LOC121099708, LOC129994954 +1 more (L7Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2491632	NM_024028.4(PCYOX1L):c.28G>C (p.Ala10Pro)	LOC121099708, LOC129994954 +1 more (A10P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3305285	NM_024028.4(PCYOX1L):c.47C>T (p.Ala16Val)	LOC129994954, PCYOX1L (A16V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3210500	NM_024028.4(PCYOX1L):c.49G>A (p.Ala17Thr)	LOC129994954, PCYOX1L (A17T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3210504	NM_024028.4(PCYOX1L):c.84A>T (p.Lys28Asn)	LOC129994954, PCYOX1L (K28N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291001	NM_024028.4(PCYOX1L):c.89C>T (p.Ala30Val)	PCYOX1L (A13V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305284	NM_024028.4(PCYOX1L):c.151C>G (p.Pro51Ala)	PCYOX1L (P34A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456070	NM_024028.4(PCYOX1L):c.308G>A (p.Arg103Gln)	PCYOX1L (R86Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210499	NM_024028.4(PCYOX1L):c.331G>A (p.Ala111Thr)	PCYOX1L (A94T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472134	NM_024028.4(PCYOX1L):c.340G>A (p.Gly114Ser)	PCYOX1L (G97S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528552	NM_024028.4(PCYOX1L):c.410A>C (p.Tyr137Ser)	PCYOX1L (Y120S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614081	NM_024028.4(PCYOX1L):c.538G>A (p.Glu180Lys)	PCYOX1L (E163K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305281	NM_024028.4(PCYOX1L):c.631G>C (p.Ala211Pro)	PCYOX1L (A211P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210501	NM_024028.4(PCYOX1L):c.640C>T (p.Arg214Trp)	PCYOX1L (R214W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210502	NM_024028.4(PCYOX1L):c.700G>A (p.Gly234Arg)	PCYOX1L (G158R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459021	NM_024028.4(PCYOX1L):c.746T>C (p.Val249Ala)	PCYOX1L (V173A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381960	NM_024028.4(PCYOX1L):c.848C>T (p.Ala283Val)	PCYOX1L (A207V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308462	NM_024028.4(PCYOX1L):c.888C>G (p.Asp296Glu)	PCYOX1L (D220E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553706	NM_024028.4(PCYOX1L):c.1015G>A (p.Gly339Ser)	PCYOX1L (G339S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512321	NM_024028.4(PCYOX1L):c.1150C>T (p.Arg384Trp)	PCYOX1L (R367W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224940	NM_024028.4(PCYOX1L):c.1289C>T (p.Ser430Phe)	PCYOX1L (S430F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473740	NM_024028.4(PCYOX1L):c.1292G>T (p.Arg431Leu)	PCYOX1L (R355L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369594	NM_024028.4(PCYOX1L):c.1298C>T (p.Thr433Met)	PCYOX1L (T357M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210497	NM_024028.4(PCYOX1L):c.1308G>T (p.Arg436Ser)	PCYOX1L (R436S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535242	NM_024028.4(PCYOX1L):c.1340A>G (p.Asn447Ser)	PCYOX1L (N430S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305282	NM_024028.4(PCYOX1L):c.1364C>A (p.Ser455Tyr)	PCYOX1L (S438Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305283	NM_024028.4(PCYOX1L):c.1435G>C (p.Asp479His)	PCYOX1L (D403H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612905	NM_024028.4(PCYOX1L):c.1445A>T (p.Asp482Val)	PCYOX1L (D482V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466791	NM_024028.4(PCYOX1L):c.1453G>T (p.Asp485Tyr)	PCYOX1L (D409Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425319	NC_000005.9:g.(?_147774340)_(149681936_?)del	ABLIM3, ADRB2 +23 more	Deletion	not provided	GUncertain significance
Select item 1808574	GRCh37/hg19 5q32(chr5:147164969-149315489)x1	ABLIM3, ADRB2 +23 more	Copy number loss	not provided	GPathogenic
Select item 687529	GRCh37/hg19 5q31.3-32(chr5:140424333-148985999)x3	ABLIM3, ADRB2 +92 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ARB2A, CHD1 +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 442272	GRCh37/hg19 5q31.3-32(chr5:141113273-149154835)x1	ABLIM3, ADRB2 +48 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 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: 46