ClinVar for Gene (Select 50807) - ClinVar

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Links from Gene

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3130034	NM_018482.4(ASAP1):c.3371T>C (p.Val1124Ala)	ASAP1 (V1124A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130033	NM_018482.4(ASAP1):c.3068C>T (p.Pro1023Leu)	ASAP1 (P966L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130032	NM_018482.4(ASAP1):c.2867C>T (p.Pro956Leu)	ASAP1 (P949L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130031	NM_018482.4(ASAP1):c.2429C>T (p.Pro810Leu)	ASAP1 (P803L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130030	NM_018482.4(ASAP1):c.2363C>T (p.Thr788Met)	ASAP1 (T791M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130029	NM_018482.4(ASAP1):c.2048C>G (p.Thr683Ser)	ASAP1 (T683S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130028	NM_018482.4(ASAP1):c.1295A>G (p.Asn432Ser)	ASAP1 (N432S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063053	GRCh37/hg19 8q24.11-24.22(chr8:118071721-132774256)x1	ADCY8, ANXA13 +51 more	Copy number loss	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3024645	GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3	OPLAH, PARP10 +173 more	Copy number gain	not provided	GPathogenic
Select item 2658817	NM_018482.4(ASAP1):c.2814C>T (p.Asp938=)	ASAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2658816	NM_018482.4(ASAP1):c.3162G>A (p.Thr1054=)	ASAP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622483	NM_018482.4(ASAP1):c.2431C>A (p.Leu811Ile)	ASAP1 (L804I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2620881	NM_018482.4(ASAP1):c.400A>T (p.Asn134Tyr)	ASAP1 (N134Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614801	NM_018482.4(ASAP1):c.1649A>G (p.His550Arg)	ASAP1 (H543R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611267	NM_018482.4(ASAP1):c.3325A>G (p.Ile1109Val)	ASAP1 (I1102V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600650	NM_018482.4(ASAP1):c.2237C>T (p.Ser746Phe)	ASAP1 (S746F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600593	NM_018482.4(ASAP1):c.635G>A (p.Arg212His)	ASAP1 (R212H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579176	GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3	CCN3, CCN4 +558 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2578018	GRCh37/hg19 8q24.21-24.3(chr8:131138343-143473913)	ADCY8, AGO2 +29 more	Copy number gain	Distal trisomy 8q	GPathogenic
Select item 2558423	NM_018482.4(ASAP1):c.3191C>T (p.Thr1064Met)	ASAP1 (T1007M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557753	NM_018482.4(ASAP1):c.1298G>A (p.Ser433Asn)	ASAP1 (S433N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545001	NM_018482.4(ASAP1):c.1741C>A (p.Gln581Lys)	ASAP1 (Q574K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533321	NM_018482.4(ASAP1):c.2452G>A (p.Gly818Ser)	ASAP1 (G818S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509458	NM_018482.4(ASAP1):c.2249A>G (p.Lys750Arg)	ASAP1 (K750R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481470	NM_018482.4(ASAP1):c.626A>G (p.Lys209Arg)	ASAP1 (K209R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474249	NM_018482.4(ASAP1):c.2619T>G (p.Phe873Leu)	ASAP1 (F819L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468529	NM_018482.4(ASAP1):c.1748A>G (p.Tyr583Cys)	ASAP1 (Y576C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402395	NM_018482.4(ASAP1):c.1858G>A (p.Val620Ile)	ASAP1 (V620I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371781	NM_018482.4(ASAP1):c.2362A>G (p.Thr788Ala)	ASAP1 (T788A +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2369753	NM_018482.4(ASAP1):c.3136G>A (p.Asp1046Asn)	ASAP1 (D989N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344556	NM_018482.4(ASAP1):c.1825G>A (p.Val609Ile)	ASAP1 (V602I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314445	NM_018482.4(ASAP1):c.3104C>G (p.Ala1035Gly)	ASAP1 (A1028G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240957	NM_018482.4(ASAP1):c.1055G>A (p.Gly352Glu)	ASAP1 (G345E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808708	GRCh37/hg19 8q23.3-24.22(chr8:112234557-133668379)x1	AARD, ADCY8 +63 more	Copy number loss	not provided	GPathogenic
Select item 1808308	GRCh37/hg19 8q24.21(chr8:131108985-131326757)x1	ASAP1, ASAP1-IT1	Copy number loss	not provided	GUncertain significance
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1676301	GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)	FZD6, PCAT1 +236 more	Copy number gain	not provided	GPathogenic
Select item 1527465	GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771)	ADCK5, ADCY8 +117 more	Copy number gain	not specified	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1328457	GRCh37/hg19 8q24.21-24.3(chr8:128878931-141662233)x3	ADCY8, AGO2 +25 more	Copy number gain	not provided	GUncertain significance
Select item 815169	GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3	ADCK5, ADCY8 +119 more	Copy number gain	not provided	GPathogenic
Select item 815167	GRCh37/hg19 8q24.13-24.3(chr8:126892814-143750028)x1	ADCY8, ADGRB1 +39 more	Copy number loss	not provided	GPathogenic
Select item 815163	GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3	ADGRB1, ADCY8 +155 more	Copy number gain	not provided	GPathogenic
Select item 769345	NM_018482.4(ASAP1):c.789G>A (p.Gln263=)	ASAP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769344	NM_018482.4(ASAP1):c.1169-8dup	ASAP1	Duplication (intron variant)	not provided	GBenign
Select item 689071	GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3	ADCK5, ADCY8 +150 more	Copy number gain	not provided	GPathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	MICU3, MIR1234 +665 more	Copy number gain	not provided	GPathogenic
Select item 687747	GRCh37/hg19 8q24.13-24.22(chr8:124120772-135265846)x1	ADCY8, ANXA13 +43 more	Copy number loss	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	VPS13B, VPS28 +474 more	Copy number gain	not provided	GPathogenic
Select item 687465	GRCh37/hg19 8q24.13-24.21(chr8:123074293-131113892)x1	ANXA13, ASAP1 +31 more	Copy number loss	not provided	GPathogenic
Select item 684997	GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3	ADCK5, ADCY8 +132 more	Copy number gain	not provided	GPathogenic
Select item 624511	GRCh37/hg19 8q24.21(chr8:130818619-131117179)x3	ASAP1, CYRIB	Copy number gain	not provided	GLikely benign
Select item 563555	GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3	ADCK5, ADCY8 +151 more	Copy number gain	not provided	GPathogenic
Select item 443924	GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	AARD, ABRA +277 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	KCNQ3, KCNS2 +593 more	Copy number gain	See cases	GPathogenic
Select item 442692	GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3	AARD, ADCK5 +172 more	Copy number gain	See cases	GPathogenic
Select item 442591	GRCh37/hg19 8q24.21-24.22(chr8:131021126-131666266)x1	ASAP1, ASAP1-IT1 +1 more	Copy number loss	See cases	GUncertain significance
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	PPDPFL, PPP1R16A +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 441947	GRCh37/hg19 8q24.21-24.22(chr8:131025817-133947836)x3	ADCY8, ASAP1 +10 more	Copy number gain	See cases	GUncertain significance
Select item 441804	GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3	RRM2B, SLC30A8 +160 more	Copy number gain	See cases	GPathogenic
Select item 441594	GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3	SLC45A4, SLC7A13 +189 more	Copy number gain	See cases	GPathogenic
Select item 395449	GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4	AARD, ABRA +228 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	CLDN23, LONRF1 +665 more	Copy number gain	See cases	GPathogenic
Select item 394662	GRCh37/hg19 8q24.21-24.22(chr8:128295596-133200773)x1	ADCY8, ASAP1 +10 more	Copy number loss	See cases	GLikely pathogenic
Select item 394280	GRCh37/hg19 8q24.21(chr8:130864817-131107261)x3	ASAP1, CYRIB	Copy number gain	See cases	GUncertain significance
Select item 221833	GRCh37/hg19 8q24.21(chr8:130866512-131107094)x3	ASAP1, CYRIB	Copy number gain	Premature ovarian failure	GBenign
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC126860518, LOC126860519 +1552 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 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001415, LOC130001416 +1067 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC130001139, LOC130001140 +1686 more	Copy number gain	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 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	AARD, ABRA +3658 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130001420, LOC130001421 +1204 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	LOC130001371, LOC130001372 +1329 more	Copy number gain	See cases	GPathogenic
Select item 151549	GRCh38/hg38 8q24.21(chr8:129867902-130095015)x4	ASAP1, ASAP1-IT2 +18 more	Copy number gain	See cases	GUncertain significance
Select item 151548	GRCh38/hg38 8q24.21(chr8:129867902-130095015)x3	ASAP1, ASAP1-IT2 +18 more	Copy number gain	See cases	GUncertain significance
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LINC02894, LINC02906 +1960 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	LOC130001211, LOC130001212 +1690 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 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130000964, LOC130000965 +1531 more	Copy number gain	See cases	GPathogenic
Select item 149326	GRCh38/hg38 8q24.21-24.22(chr8:130012847-130655332)x1	ASAP1, ASAP1-IT1 +21 more	Copy number loss	See cases	GUncertain significance
Select item 149079	GRCh38/hg38 8q24.21-24.22(chr8:130012847-130639241)x1	ASAP1, ASAP1-IT1 +21 more	Copy number loss	See cases	GUncertain significance
Select item 148271	GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	ADCK5, ADCY8 +746 more	Copy number gain	See cases	GPathogenic
Select item 146541	GRCh38/hg38 8q24.21-24.22(chr8:130030535-130742761)x3	ASAP1, ASAP1-IT1 +21 more	Copy number gain	See cases	GUncertain significance
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1152 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130000908, LOC130000909 +1406 more	Copy number gain	See cases	GPathogenic
Select item 144139	GRCh38/hg38 8q24.21-24.3(chr8:130115518-141228210)x3	CCN4, CHRAC1 +206 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 57179	GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3	ADCK5, ADCY8 +567 more	Copy number gain	See cases	GPathogenic
Select item 57119	GRCh38/hg38 8q24.21-24.22(chr8:129176782-134170188)x1	ADCY8, ASAP1 +131 more	Copy number loss	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC124188223, LOC124188224 +961 more	Copy number gain	See cases	GPathogenic
Select item 33826	GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3	LOC130001144, LOC130001145 +745 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 97