INAFM1[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	LOC129391127, LOC129391128 +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	LOC130064822, LOC130064823 +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)	not specified	GUncertain significance
Select item 2485227	NM_178511.6(INAFM1):c.14G>C (p.Ser5Thr)	CCDC9, INAFM1 +1 more (S5T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109603	NM_178511.6(INAFM1):c.94C>G (p.Pro32Ala)	CCDC9, INAFM1 +1 more (P32A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109599	NM_178511.6(INAFM1):c.133G>A (p.Val45Met)	CCDC9, INAFM1 +1 more (V45M)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 3285985	NM_178511.6(INAFM1):c.277C>G (p.Leu93Val)	CCDC9, INAFM1 +1 more (L93V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3109600	NM_178511.6(INAFM1):c.290T>C (p.Leu97Pro)	CCDC9, INAFM1 +1 more (L97P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491205	NM_178511.6(INAFM1):c.350A>G (p.Tyr117Cys)	CCDC9, INAFM1 (Y117C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406321	NM_178511.6(INAFM1):c.356A>G (p.Asp119Gly)	CCDC9, INAFM1 (D119G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109601	NM_178511.6(INAFM1):c.364C>T (p.Arg122Cys)	CCDC9, INAFM1 (R122C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493856	NM_178511.6(INAFM1):c.371C>T (p.Pro124Leu)	CCDC9, INAFM1 (P124L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3109602	NM_178511.6(INAFM1):c.377G>T (p.Arg126Leu)	CCDC9, INAFM1 (R126L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589259	NM_178511.6(INAFM1):c.380A>G (p.Gln127Arg)	CCDC9, INAFM1 (Q127R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2504578	GRCh37/hg19 19q13.32-13.33(chr19:47028919-48185409)	AP2S1, ARHGAP35 +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	OPA3, PPP1R37 +74 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 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)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 441540	GRCh37/hg19 19q13.32-13.33(chr19:46404248-48488721)x1	AP2S1, ARHGAP35 +46 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: 39