INAFM1[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	AP2S1, ARHGAP35 +363 more	Copy number gain	See cases	GPathogenic
Select item 60103	GRCh38/hg38 19q13.32-13.33(chr19:46458122-47683579)x1	AP2S1, ARHGAP35 +123 more	Copy number loss	See cases	GPathogenic
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	AP2S1, ARHGAP35 +290 more	Copy number gain	See cases	GPathogenic
Select item 149907	GRCh38/hg38 19q13.32-13.33(chr19:47253630-47744714)x3	BICRA, BICRA-AS2 +45 more	Copy number gain	See cases	GLikely benign
Select item 2579250	GRCh38/hg38 19q13.32-13.33(chr19:47257435-47886413)x1	BICRA, BICRA-AS2 +56 more	Copy number loss	Cone-rod dystrophy 2	GUncertain significance
Select item 2515322	NM_178511.6(INAFM1):c.8G>A (p.Gly3Glu)	CCDC9, INAFM1 +1 more (G3E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485227	NM_178511.6(INAFM1):c.14G>C (p.Ser5Thr)	CCDC9, INAFM1 +1 more (S5T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617919	NM_178511.6(INAFM1):c.139C>G (p.Leu47Val)	CCDC9, INAFM1 +1 more (L47V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2247111	NM_178511.6(INAFM1):c.145G>A (p.Val49Met)	CCDC9, INAFM1 +1 more (V49M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2466148	NM_178511.6(INAFM1):c.149A>G (p.Tyr50Cys)	CCDC9, INAFM1 +1 more (Y50C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2246701	NM_178511.6(INAFM1):c.157C>T (p.Leu53Phe)	CCDC9, INAFM1 +1 more (L53F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2349830	NM_178511.6(INAFM1):c.218C>T (p.Ser73Phe)	CCDC9, INAFM1 +1 more (S73F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2330281	NM_178511.6(INAFM1):c.230C>G (p.Ala77Gly)	CCDC9, INAFM1 +1 more (A77G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2343948	NM_178511.6(INAFM1):c.239C>G (p.Pro80Arg)	CCDC9, INAFM1 +1 more (P80R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2455339	NM_178511.6(INAFM1):c.251C>G (p.Pro84Arg)	CCDC9, INAFM1 +1 more (P84R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2386130	NM_178511.6(INAFM1):c.260C>T (p.Ala87Val)	CCDC9, INAFM1 +1 more (A87V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2491205	NM_178511.6(INAFM1):c.350A>G (p.Tyr117Cys)	CCDC9, INAFM1 (Y117C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2406321	NM_178511.6(INAFM1):c.356A>G (p.Asp119Gly)	INAFM1, CCDC9 (D119G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2493856	NM_178511.6(INAFM1):c.371C>T (p.Pro124Leu)	CCDC9, INAFM1 (P124L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2589259	NM_178511.6(INAFM1):c.380A>G (p.Gln127Arg)	CCDC9, INAFM1 (Q127R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2504578	GRCh37/hg19 19q13.32-13.33(chr19:47028919-48185409)	CCDC9, DACT3 +25 more	Copy number gain	Coffin-Siris syndrome 12	GLikely pathogenic
Select item 1526668	GRCh37/hg19 19q13.32(chr19:46918881-47782258)	AP2S1, ARHGAP35 +18 more	Copy number gain	not specified	GUncertain significance
Select item 816087	GRCh37/hg19 19q13.32-13.33(chr19:47331662-48234260)x3	ZNF541, EHD2 +17 more	Copy number gain	not provided	GUncertain significance
Select item 816085	GRCh37/hg19 19q13.32-13.33(chr19:45531056-48174177)x3	GPR4, LOC400706 +75 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	CLDND2, IGSF23 +293 more	Copy number gain	not provided	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 625762	GRCh37/hg19 19q13.32-13.33(chr19:47036361-48525536)	AP2S1, ARHGAP35 +33 more	Copy number gain	not provided	GPathogenic
Select item 493602	GRCh37/hg19 19q13.32(chr19:47228251-47867279)x3	AP2S1, ARHGAP35 +13 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 441540	GRCh37/hg19 19q13.32-13.33(chr19:46404248-48488721)x1	SELENOW, SLC1A5 +47 more	Copy number loss	See cases	GLikely pathogenic
Select item 394131	GRCh37/hg19 19q13.32(chr19:47567615-47856225)x3	BBC3, C5AR1 +6 more	Copy number gain	See cases	GUncertain significance
Select item 393971	GRCh37/hg19 19q13.32(chr19:47450549-47880338)x3	ARHGAP35, BBC3 +9 more	Copy number gain	See cases	GLikely pathogenic

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Items: 33