ADAM7-AS2[gene] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	LOC129999937, LOC129999938 +3658 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC129999850, LOC129999851 +1038 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC126860345, LOC126860346 +1103 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	PKHD1L1, PKIA +3656 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC126860501, LOC126860502 +3652 more	Copy number gain	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC130000150, LOC130000151 +996 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	MIR7705, MIR7848 +3656 more	Copy number gain	See cases	GPathogenic
Select item 146786	GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3	ADAM28, ADAM7 +736 more	Copy number gain	See cases	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	MIR4660, MIR548H4 +773 more	Copy number loss	See cases	GPathogenic
Select item 32400	GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1	ADAM28, ADAM7 +773 more	Copy number loss	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DUSP4, EBF2 +1018 more	Copy number gain	See cases	GPathogenic
Select item 150733	GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	ADAM28, ADAM7 +694 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	ADAM18, ADAM2 +935 more	Copy number gain	See cases	GPathogenic
Select item 149191	GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3	ADAM28, ADAM7 +499 more	Copy number gain	See cases	GPathogenic
Select item 154449	GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1	LOC132089588, LOC132089589 +510 more	Copy number loss	See cases	GPathogenic
Select item 146257	GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3	LOC130000086, LOC130000087 +932 more	Copy number gain	See cases	GPathogenic
Select item 57442	GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3	ADAM28, ADAM7 +663 more	Copy number gain	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC121331299, LOC121331300 +868 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	ADAM18, ADAM2 +927 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC130000305, LOC130000306 +927 more	Copy number gain	See cases	GPathogenic
Select item 59763	GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3	ADAM28, ADAM7 +703 more	Copy number gain	See cases	GPathogenic
Select item 34276	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC130000069, LOC130000070 +868 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	ADAM18, ADAM2 +816 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC130000275, LOC130000276 +927 more	Copy number gain	See cases	GPathogenic
Select item 148997	GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3	ADAM28, ADAM7 +651 more	Copy number gain	See cases	GPathogenic
Select item 2579268	GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1	ADAM28, ADAM7 +567 more	Copy number loss	Microcephaly	GPathogenic
Select item 147664	GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3	ADAM28, ADAM7 +567 more	Copy number gain	See cases	GPathogenic
Select item 161019	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	LOC101929258, LOC101929470 +920 more	Copy number gain	See cases	GPathogenic
Select item 147303	GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	LOC113788273, LOC113788274 +805 more	Copy number gain	See cases	GPathogenic
Select item 57410	GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	LOC129999948, LOC129999949 +855 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +920 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000249, LOC130000250 +789 more	Copy number gain	See cases	GPathogenic
Select item 59767	GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3	ADAM28, ADAM7 +523 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	TNFRSF10A, TNFRSF10A-DT +920 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	ADAM18, ADAM2 +898 more	Copy number gain	See cases	GPathogenic
Select item 154680	GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1	ADAM28, ADAM7 +532 more	Copy number loss	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC130000156, LOC130000157 +3106 more	Copy number gain	See cases	GPathogenic
Select item 148813	GRCh38/hg38 8p21.3-21.2(chr8:22946697-25125997)x3	ADAM28, ADAM7 +72 more	Copy number gain	See cases	GUncertain significance
Select item 147426	GRCh38/hg38 8p21.2(chr8:23757449-24517207)x3	ADAM28, ADAM7 +10 more	Copy number gain	See cases	GUncertain significance
Select item 58413	GRCh38/hg38 8p21.2(chr8:23961808-25436108)x3	ADAM28, ADAM7 +26 more	Copy number gain	See cases	GUncertain significance
Select item 153727	GRCh38/hg38 8p21.2(chr8:24017764-24642890)x3	ADAM28, ADAM7 +6 more	Copy number gain	See cases	GUncertain significance
Select item 58414	GRCh38/hg38 8p21.2(chr8:24463803-25049184)x3	ADAM7, ADAM7-AS1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 2236869	NM_003817.4(ADAM7):c.1325G>A (p.Cys442Tyr)	ADAM7, ADAM7-AS1 +1 more (C442Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242464	NM_003817.4(ADAM7):c.1337A>G (p.Glu446Gly)	ADAM7, ADAM7-AS1 +1 more (E446G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222597	NM_003817.4(ADAM7):c.1364A>G (p.Lys455Arg)	ADAM7, ADAM7-AS1 +1 more (K455R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2290857	NM_003817.4(ADAM7):c.1388C>A (p.Ala463Glu)	ADAM7, ADAM7-AS1 +1 more (A463E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3145898	NM_003817.4(ADAM7):c.1457G>A (p.Arg486Lys)	ADAM7, ADAM7-AS1 +1 more (R486K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2205499	NM_003817.4(ADAM7):c.1475G>A (p.Cys492Tyr)	ADAM7, ADAM7-AS1 +1 more (C492Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2279822	NM_003817.4(ADAM7):c.1500C>A (p.Phe500Leu)	ADAM7, ADAM7-AS1 +1 more (F500L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3145910	NM_003817.4(ADAM7):c.1632C>G (p.Asn544Lys)	ADAM7, ADAM7-AS1 +1 more (N544K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372674	NM_003817.4(ADAM7):c.1667G>A (p.Cys556Tyr)	ADAM7, ADAM7-AS1 +1 more (C556Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537290	NM_003817.4(ADAM7):c.1769A>G (p.Lys590Arg)	ADAM7, ADAM7-AS1 +1 more (K590R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555796	NM_003817.4(ADAM7):c.1774A>C (p.Ile592Leu)	ADAM7, ADAM7-AS1 +1 more (I592L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259416	NM_003817.4(ADAM7):c.1786C>A (p.His596Asn)	ADAM7, ADAM7-AS1 +1 more (H596N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210025	NM_003817.4(ADAM7):c.1810G>C (p.Val604Leu)	ADAM7, ADAM7-AS1 +1 more (V604L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204092	NM_003817.4(ADAM7):c.1837G>C (p.Gly613Arg)	ADAM7, ADAM7-AS1 +1 more (G613R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2658485	NM_003817.4(ADAM7):c.1845G>C (p.Val615=)	ADAM7, ADAM7-AS1 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2308249	NM_003817.4(ADAM7):c.1981G>A (p.Glu661Lys)	ADAM7, ADAM7-AS1 +1 more (E661K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145923	NM_003817.4(ADAM7):c.2026C>T (p.Leu676Phe)	ADAM7, ADAM7-AS1 +1 more (L676F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145924	NM_003817.4(ADAM7):c.2041G>A (p.Val681Ile)	ADAM7, ADAM7-AS1 +1 more (V681I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2591596	NM_003817.4(ADAM7):c.2050G>A (p.Gly684Arg)	ADAM7, ADAM7-AS1 +1 more (G684R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348207	NM_003817.4(ADAM7):c.2072G>A (p.Arg691His)	ADAM7, ADAM7-AS1 +1 more (R691H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614746	NM_003817.4(ADAM7):c.2141A>T (p.Lys714Ile)	ADAM7, ADAM7-AS1 +1 more (K714I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145925	NM_003817.4(ADAM7):c.2163G>C (p.Gln721His)	ADAM7, ADAM7-AS1 +1 more (Q721H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368739	NM_003817.4(ADAM7):c.2183T>A (p.Ile728Asn)	ADAM7, ADAM7-AS1 +1 more (I728N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368740	NM_003817.4(ADAM7):c.2184C>G (p.Ile728Met)	ADAM7, ADAM7-AS1 +1 more (I728M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366056	NM_003817.4(ADAM7):c.2213C>T (p.Pro738Leu)	ADAM7, ADAM7-AS1 +1 more (P738L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256053	NM_003817.4(ADAM7):c.2239G>A (p.Ala747Thr)	ADAM7, ADAM7-AS1 +1 more (A747T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 70