FRMD6[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 152063	GRCh38/hg38 14q21.1-22.3(chr14:39196172-56714461)x3	ABHD12B, ARF6 +394 more	Copy number gain	See cases	GLikely pathogenic
Select item 58307	GRCh38/hg38 14q21.3-22.1(chr14:50091150-51777325)x3	ABHD12B, ATL1 +70 more	Copy number gain	See cases	GUncertain significance
Select item 57779	GRCh38/hg38 14q22.1-22.3(chr14:50591011-56286919)x1	ABHD12B, ATG14 +217 more	Copy number loss	See cases	GPathogenic
Select item 146623	GRCh38/hg38 14q22.1-22.3(chr14:51544846-55320598)x1	BMP4, CDKN3 +147 more	Copy number loss	See cases	GPathogenic
Select item 2241525	NM_001267046.2(FRMD6):c.38A>G (p.Gln13Arg)	FRMD6 (Q13R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465986	NM_001267046.2(FRMD6):c.46C>T (p.Arg16Cys)	FRMD6 (R16C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492926	NM_001267046.2(FRMD6):c.127G>A (p.Val43Ile)	FRMD6 (V43I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475391	NM_001267046.2(FRMD6):c.128T>G (p.Val43Gly)	FRMD6 (V43G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298746	NM_001267046.2(FRMD6):c.218C>T (p.Ser73Leu)	FRMD6 (S73L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279896	NM_001267046.2(FRMD6):c.335G>A (p.Arg112His)	FRMD6 (R104H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096949	NM_001267046.2(FRMD6):c.424C>T (p.His142Tyr)	FRMD6 (H142Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096950	NM_001267046.2(FRMD6):c.539A>G (p.Glu180Gly)	FRMD6 (E172G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507579	NM_001267046.2(FRMD6):c.643G>A (p.Ala215Thr)	FRMD6 (A207T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346739	NM_001267046.2(FRMD6):c.662A>G (p.Lys221Arg)	FRMD6 (K221R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320227	NM_001267046.2(FRMD6):c.685G>A (p.Val229Ile)	FRMD6 (V221I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096951	NM_001267046.2(FRMD6):c.688G>A (p.Ala230Thr)	FRMD6 (A222T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096952	NM_001267046.2(FRMD6):c.709T>C (p.Tyr237His)	FRMD6 (Y237H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096953	NM_001267046.2(FRMD6):c.785T>C (p.Leu262Ser)	FRMD6 (L262S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335641	NM_001267046.2(FRMD6):c.790G>A (p.Glu264Lys)	FRMD6 (E256K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096954	NM_001267046.2(FRMD6):c.868T>G (p.Leu290Val)	FRMD6 (L282V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279897	NM_001267046.2(FRMD6):c.901A>G (p.Ile301Val)	FRMD6 (I301V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279901	NM_001267046.2(FRMD6):c.965G>A (p.Arg322His)	FRMD6 (R314H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341526	NM_001267046.2(FRMD6):c.971A>G (p.Tyr324Cys)	FRMD6 (Y324C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726996	NM_001267046.2(FRMD6):c.1011G>C (p.Leu337=)	FRMD6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 776839	NM_001267046.2(FRMD6):c.1047T>C (p.Ser349=)	FRMD6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2456099	NM_001267046.2(FRMD6):c.1064T>C (p.Leu355Pro)	FRMD6 (L355P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3279892	NM_001267046.2(FRMD6):c.1072G>A (p.Asp358Asn)	FRMD6 (D358N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3096942	NM_001267046.2(FRMD6):c.1080C>A (p.Asp360Glu)	FRMD6 (D2E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219207	NM_001267046.2(FRMD6):c.1094G>T (p.Arg365Leu)	FRMD6 (R357L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383140	NM_001267046.2(FRMD6):c.1118C>T (p.Ala373Val)	FRMD6 (A373V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096944	NM_001267046.2(FRMD6):c.1147C>T (p.Arg383Cys)	FRMD6 (R25C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553031	NM_001267046.2(FRMD6):c.1148G>A (p.Arg383His)	FRMD6 (R375H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619805	NM_001267046.2(FRMD6):c.1184C>T (p.Ser395Leu)	FRMD6 (S387L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279899	NM_001267046.2(FRMD6):c.1208C>T (p.Pro403Leu)	FRMD6 (P403L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1262011	NM_001267046.2(FRMD6):c.1218G>A (p.Thr406=)	FRMD6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2398318	NM_001267046.2(FRMD6):c.1255C>T (p.Arg419Cys)	FRMD6 (R411C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279894	NM_001267046.2(FRMD6):c.1334G>A (p.Arg445Gln)	FRMD6 (R87Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482618	NM_001267046.2(FRMD6):c.1346A>G (p.Asp449Gly)	FRMD6 (D441G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096945	NM_001267046.2(FRMD6):c.1385C>T (p.Pro462Leu)	FRMD6 (P454L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346102	NM_001267046.2(FRMD6):c.1387C>T (p.Arg463Trp)	FRMD6 (R105W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252113	NM_001267046.2(FRMD6):c.1421A>C (p.Glu474Ala)	FRMD6 (E116A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279902	NM_001267046.2(FRMD6):c.1445A>G (p.Tyr482Cys)	FRMD6 (Y482C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 726813	NM_001267046.2(FRMD6):c.1464C>T (p.Leu488=)	FRMD6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3096946	NM_001267046.2(FRMD6):c.1469C>T (p.Ser490Leu)	FRMD6 (S490L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604014	NM_001267046.2(FRMD6):c.1483G>A (p.Gly495Arg)	FRMD6 (G137R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096947	NM_001267046.2(FRMD6):c.1590A>G (p.Ile530Met)	FRMD6 (I530M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609490	NM_001267046.2(FRMD6):c.1594C>T (p.Arg532Trp)	FRMD6 (R524W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267919	NM_001267046.2(FRMD6):c.1622A>G (p.His541Arg)	FRMD6 (H541R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279900	NM_001267046.2(FRMD6):c.1625G>C (p.Ser542Thr)	FRMD6 (S184T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279898	NM_001267046.2(FRMD6):c.1630A>C (p.Ser544Arg)	FRMD6 (S186R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367341	NM_001267046.2(FRMD6):c.1636G>A (p.Asp546Asn)	FRMD6 (D188N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494851	NM_001267046.2(FRMD6):c.1663T>G (p.Phe555Val)	FRMD6 (F197V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319581	NM_001267046.2(FRMD6):c.1669C>T (p.Arg557Cys)	FRMD6 (R199C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279891	NM_001267046.2(FRMD6):c.1734T>G (p.Asp578Glu)	FRMD6 (D570E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279893	NM_001267046.2(FRMD6):c.1751G>C (p.Cys584Ser)	FRMD6 (C576S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096948	NM_001267046.2(FRMD6):c.1757G>A (p.Ser586Asn)	FRMD6 (S586N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1527817	GRCh37/hg19 14q21.3-22.1(chr14:50598842-52261074)	ABHD12B, ATL1 +11 more	Copy number gain	not specified	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic

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Items: 63