ClinVar for Gene (Select 3631) - ClinVar

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Links from Gene

Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3368764	NM_001134225.2(INPP4A):c.2687G>A (p.Arg896His)	INPP4A (R846H +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3286078	NM_001134225.2(INPP4A):c.2830C>T (p.Arg944Cys)	INPP4A (R894C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286076	NM_001134225.2(INPP4A):c.502G>A (p.Val168Met)	INPP4A (V168M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286075	NM_001134225.2(INPP4A):c.1085C>T (p.Ala362Val)	INPP4A (A362V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286074	NM_001134225.2(INPP4A):c.2773G>A (p.Glu925Lys)	INPP4A (E886K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286073	NM_001134225.2(INPP4A):c.2027C>T (p.Thr676Met)	INPP4A (T643M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109790	NM_001134225.2(INPP4A):c.941A>G (p.Gln314Arg)	INPP4A (Q314R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109789	NM_001134225.2(INPP4A):c.376T>G (p.Ser126Ala)	INPP4A (S126A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109788	NM_001134225.2(INPP4A):c.2281G>A (p.Asp761Asn)	INPP4A (D728N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109787	NM_001134225.2(INPP4A):c.1997A>G (p.Gln666Arg)	INPP4A (Q633R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109786	NM_001134225.2(INPP4A):c.1793C>T (p.Ser598Phe)	INPP4A (S598F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109785	NM_001134225.2(INPP4A):c.1502T>C (p.Met501Thr)	INPP4A (M501T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024704	NM_001134225.2(INPP4A):c.1635_1649del (p.Gln545_Leu549del)	INPP4A	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 2685859	GRCh37/hg19 2q11.1-11.2(chr2:96732520-99142320)x3	ACTR1B, ADRA2B +27 more	Copy number gain	not provided	GUncertain significance
Select item 2685857	GRCh37/hg19 2q11.1-11.2(chr2:95773428-102550061)x3	ACTR1B, ADRA2B +64 more	Copy number gain	not provided	GLikely pathogenic
Select item 2618470	NM_001134225.2(INPP4A):c.887C>T (p.Thr296Ile)	INPP4A (T296I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613598	NM_001134225.2(INPP4A):c.779G>A (p.Arg260Gln)	INPP4A (R260Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608574	NM_001134225.2(INPP4A):c.1870G>A (p.Ala624Thr)	INPP4A (A585T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608490	NM_001134225.2(INPP4A):c.182A>G (p.Asp61Gly)	INPP4A (D61G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591334	NM_001134225.2(INPP4A):c.2195T>C (p.Met732Thr)	INPP4A (M682T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532352	NM_001134225.2(INPP4A):c.1429A>G (p.Ile477Val)	INPP4A (I477V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479718	NM_001134225.2(INPP4A):c.2528G>A (p.Arg843Gln)	INPP4A (R804Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466991	NM_001134225.2(INPP4A):c.1072G>A (p.Val358Ile)	INPP4A (V358I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404021	NM_001134225.2(INPP4A):c.44G>A (p.Arg15His)	INPP4A (R15H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377697	NM_001134225.2(INPP4A):c.1642C>T (p.Arg548Trp)	INPP4A (R548W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372345	NM_001134225.2(INPP4A):c.679G>A (p.Gly227Ser)	INPP4A (G227S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362156	NM_001134225.2(INPP4A):c.668C>T (p.Ser223Leu)	INPP4A (S223L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338903	NM_001134225.2(INPP4A):c.1837C>T (p.Pro613Ser)	INPP4A (P574S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337805	NM_001134225.2(INPP4A):c.1546G>A (p.Asp516Asn)	INPP4A (D521N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327289	NM_001134225.2(INPP4A):c.2812A>G (p.Met938Val)	INPP4A (M888V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326565	NM_001134225.2(INPP4A):c.673T>C (p.Phe225Leu)	INPP4A (F225L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316572	NM_001134225.2(INPP4A):c.1327C>T (p.Leu443Phe)	INPP4A (L443F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312298	NM_001134225.2(INPP4A):c.851C>A (p.Ser284Tyr)	INPP4A (S284Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311179	NM_001134225.2(INPP4A):c.355G>A (p.Val119Met)	INPP4A (V119M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310072	NM_001134225.2(INPP4A):c.2410C>G (p.Leu804Val)	INPP4A (L771V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276967	NM_001134225.2(INPP4A):c.1507C>T (p.Arg503Trp)	INPP4A (R503W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269605	NM_001134225.2(INPP4A):c.114A>G (p.Ile38Met)	INPP4A (I38M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223537	NM_001134225.2(INPP4A):c.1355A>G (p.Gln452Arg)	INPP4A (Q452R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221774	NM_001134225.2(INPP4A):c.1623C>G (p.Asp541Glu)	INPP4A (D547E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210292	NM_001134225.2(INPP4A):c.820G>A (p.Val274Met)	INPP4A (V274M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808615	GRCh37/hg19 2q11.1-11.2(chr2:95341388-100340514)x3	ACTR1B, ADRA2B +54 more	Copy number gain	not provided	GLikely pathogenic
Select item 1807902	GRCh37/hg19 2q11.2(chr2:98958721-99205212)x3	CNGA3, INPP4A	Copy number gain	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	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 1254482	NM_001134225.2(INPP4A):c.2029-10G>C	INPP4A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 804386	NM_001134225.2(INPP4A):c.352_353del (p.Ser118fs)	INPP4A (S118fs)	Microsatellite (frameshift variant)	Pectus excavatum +4 more	GLikely pathogenic
Select item 801338	NM_001134225.2(INPP4A):c.115C>T (p.Gln39Ter)	INPP4A (Q39*)	Single nucleotide variant (nonsense)	Intellectual disability	GPathogenic
Select item 792819	NM_001134225.2(INPP4A):c.246G>A (p.Lys82=)	INPP4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 789702	NM_001134225.2(INPP4A):c.1965C>T (p.Ser655=)	INPP4A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 783335	NM_001134225.2(INPP4A):c.678T>C (p.Gly226=)	INPP4A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 775175	NM_001134225.2(INPP4A):c.2571G>C (p.Leu857=)	INPP4A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 755825	NM_001134225.2(INPP4A):c.324T>A (p.Leu108=)	INPP4A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 719167	NM_001134225.2(INPP4A):c.930C>T (p.Thr310=)	INPP4A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 719006	NM_001134225.2(INPP4A):c.1458T>C (p.Thr486=)	INPP4A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 713269	NM_001134225.2(INPP4A):c.2034C>T (p.Thr678=)	INPP4A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 713046	NM_001134225.2(INPP4A):c.2152+8G>A	INPP4A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 708635	NM_001134225.2(INPP4A):c.1968G>C (p.Ala656=)	INPP4A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 708516	NM_001134225.2(INPP4A):c.1526G>A (p.Ser509Asn)	INPP4A (S509N +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 623236	NM_001134225.2(INPP4A):c.36C>T (p.Ala12=)	INPP4A	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal dominant 1	GLikely pathogenic
Select item 562679	GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3	C2orf15, C2orf49 +122 more	Copy number gain	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 443415	GRCh37/hg19 2q11.1-12.2(chr2:95518497-107186127)	ACTR1B, ADRA2B +86 more	Copy number gain	See cases	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 395690	GRCh37/hg19 2q11.1-12.3(chr2:95529039-108518266)	ACTR1B, ADRA2B +88 more	Copy number gain	See cases	GPathogenic
Select item 394206	GRCh37/hg19 2q11.1-11.2(chr2:95691600-100587394)	AFF3, ADRA2B +53 more	Copy number gain	See cases	GPathogenic
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 150339	GRCh38/hg38 2q11.2(chr2:98411773-101636907)x1	AFF3, C2orf15 +114 more	Copy number loss	See cases	GLikely pathogenic
Select item 148950	GRCh38/hg38 2q11.1-11.2(chr2:95337458-99072953)x3	ACTR1B, ADRA2B +207 more	Copy number gain	See cases	GUncertain significance
Select item 59147	GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3	AFF3, C2orf15 +373 more	Copy number gain	See cases	GPathogenic
Select item 59146	GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3	LOC129934355, LOC129934356 +348 more	Copy number gain	See cases	GPathogenic
Select item 59145	GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3	ACTR1B, ADRA2B +331 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 72