ADAM7-AS2[gene] - ClinVar

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Items: 75

	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	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC130000099, LOC130000100 +1040 more	Copy number gain	See cases	GPathogenic
Select item 148741	GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3	LOC130000032, LOC130000033 +1105 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149882	GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3	LOC129999950, LOC129999951 +996 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 146786	GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3	LOC129999950, LOC129999951 +736 more	Copy number gain	See cases	GPathogenic
Select item 161037	GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1	ADAM28, ADAM7 +773 more	Copy number loss	See cases	GPathogenic
Select item 32400	GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1	XKR5, XKR6 +773 more	Copy number loss	See cases	GPathogenic
Select item 151133	GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3	DPYSL2, DUSP26 +1020 more	Copy number gain	See cases	GPathogenic
Select item 150733	GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3	LOC126860319, LOC126860320 +696 more	Copy number gain	See cases	GPathogenic
Select item 148174	GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3	LOC130000106, LOC130000107 +937 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	LOC130000241, LOC130000242 +934 more	Copy number gain	See cases	GPathogenic
Select item 57442	GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3	ADAM28, ADAM7 +665 more	Copy number gain	See cases	GPathogenic
Select item 161033	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	LOC129999967, LOC129999968 +870 more	Copy number gain	See cases	GPathogenic
Select item 146507	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3	KAT6A-AS1, KCNU1 +929 more	Copy number gain	See cases	GPathogenic
Select item 59764	GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3	LOC130000074, LOC130000075 +929 more	Copy number gain	See cases	GPathogenic
Select item 59763	GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3	TNFRSF10A, TNFRSF10A-DT +705 more	Copy number gain	See cases	GPathogenic
Select item 34276	GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3	ADAM18, ADAM2 +870 more	Copy number gain	See cases	GPathogenic
Select item 155441	GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3	LOC124153144, LOC124153145 +818 more	Copy number gain	See cases	GPathogenic
Select item 151014	GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3	LOC113788268, LOC113788269 +929 more	Copy number gain	See cases	GPathogenic
Select item 148997	GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3	LOC128772328, LOC129389957 +653 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	LOC130000303, LOC130000304 +922 more	Copy number gain	See cases	GPathogenic
Select item 147303	GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3	LOC113788272, LOC113788273 +807 more	Copy number gain	See cases	GPathogenic
Select item 57410	GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3	LOC130000012, LOC130000013 +857 more	Copy number gain	See cases	GPathogenic
Select item 32941	GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 150985	GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3	LOC130000050, LOC130000051 +791 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	ADAM18, ADAM2 +922 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	LOC130000309, LOC130000310 +900 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	LOC129999966, LOC129999967 +3111 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 3266113	NM_003817.4(ADAM7):c.1354C>G (p.Gln452Glu)	ADAM7, ADAM7-AS1 +1 more (Q452E)	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 3266130	NM_003817.4(ADAM7):c.1367C>T (p.Ala456Val)	ADAM7, ADAM7-AS1 +1 more (A456V)	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 3266150	NM_003817.4(ADAM7):c.1712G>C (p.Gly571Ala)	ADAM7, ADAM7-AS1 +1 more (G571A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266124	NM_003817.4(ADAM7):c.1741C>A (p.Pro581Thr)	ADAM7, ADAM7-AS1 +1 more (P581T)	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-AS1, ADAM7-AS2 +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 3266142	NM_003817.4(ADAM7):c.1918A>C (p.Asn640His)	ADAM7, ADAM7-AS1 +1 more (N640H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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: 75