AFMID[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic
Select item 150705	GRCh38/hg38 17q25.3(chr17:78092356-78444214)x1	AFMID, BIRC5 +82 more	Copy number loss	See cases	GLikely benign
Select item 3093222	NM_001010982.5(AFMID):c.4A>G (p.Met2Val)	AFMID (M2V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255232	NM_001010982.5(AFMID):c.98T>C (p.Val33Ala)	AFMID (V33A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2368771	NM_001010982.5(AFMID):c.104G>A (p.Arg35Gln)	AFMID (R35Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2600188	NM_001010982.5(AFMID):c.251C>T (p.Ser84Leu)	AFMID (R54C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527746	NM_001010982.5(AFMID):c.304G>A (p.Gly102Arg)	AFMID (G102R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244092	NM_001010982.5(AFMID):c.331G>C (p.Val111Leu)	AFMID (V111L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392569	NM_001010982.5(AFMID):c.377A>G (p.Tyr126Cys)	AFMID (Y126C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568415	NM_001010982.5(AFMID):c.379G>A (p.Gly127Ser)	AFMID (G127S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249877	NM_001010982.5(AFMID):c.398C>A (p.Thr133Asn)	AFMID (H104Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093219	NM_001010982.5(AFMID):c.407A>G (p.His136Arg)	AFMID (H136R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2244844	NM_001010982.5(AFMID):c.418C>A (p.Gln140Lys)	AFMID (P76Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232071	NM_001010982.5(AFMID):c.520C>T (p.Leu174Phe)	AFMID (L174F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535709	NM_001010982.5(AFMID):c.577G>A (p.Val193Met)	AFMID (V77M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354236	NM_001010982.5(AFMID):c.577G>C (p.Val193Leu)	AFMID (V77L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093232	NM_001010982.5(AFMID):c.607G>A (p.Val203Met)	AFMID (V203M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2228431	NM_001010982.5(AFMID):c.613A>G (p.Thr205Ala)	AFMID (T89A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2648336	NM_001010982.5(AFMID):c.618A>G (p.Ser206=)	AFMID	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2348073	NM_001010982.5(AFMID):c.695C>T (p.Pro232Leu)	AFMID (P232L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093237	NM_001010982.5(AFMID):c.713G>A (p.Arg238His)	AFMID (R126H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093238	NM_001010982.5(AFMID):c.727G>A (p.Val243Met)	AFMID (V131M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410082	NM_001010982.5(AFMID):c.740A>T (p.Asp247Val)	AFMID (D135V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093247	NM_001010982.5(AFMID):c.797A>G (p.Glu266Gly)	AFMID (E111G +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3093255	NM_001010982.5(AFMID):c.837C>G (p.His279Gln)	AFMID (H167Q +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388392	NM_001010982.5(AFMID):c.844A>G (p.Ile282Val)	AFMID (I127V +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2648337	NM_001010982.5(AFMID):c.861C>T (p.Thr287=)	AFMID	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2562395	NM_001010982.5(AFMID):c.873C>A (p.Asn291Lys)	AFMID (N136K +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3093280	NM_001010982.5(AFMID):c.874G>A (p.Val292Met)	AFMID (V137M +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2257925	NM_001010982.5(AFMID):c.883C>G (p.Gln295Glu)	AFMID (Q183E +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3242941	NC_000017.10:g.(?_76109229)_(78367298_?)dup	AFMID, BIRC5 +29 more	Duplication	Idiopathic generalized epilepsy	GUncertain significance
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	EVPL, EXOC7 +146 more	Copy number gain	not provided	GPathogenic
Select item 815953	GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3	AANAT, ACOX1 +84 more	Copy number gain	not provided	GPathogenic
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 395416	GRCh37/hg19 17q25.3(chr17:76193188-76220266)x3	AFMID, BIRC5	Copy number gain	See cases	GLikely benign

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Items: 43