ClinVar for Gene (Select 83940) - ClinVar

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Links from Gene

Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245610	NC_000008.10:g.(?_124515613)_(126379127_?)del	ANXA13, FAM91A1 +13 more	Deletion	not provided	GPathogenic
Select item 3174316	NM_032026.4(TATDN1):c.804G>C (p.Glu268Asp)	TATDN1 (E214D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174315	NM_032026.4(TATDN1):c.671C>A (p.Pro224His)	TATDN1 (P177H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174314	NM_032026.4(TATDN1):c.641G>C (p.Ser214Thr)	TATDN1 (S214T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174313	NM_032026.4(TATDN1):c.50T>C (p.Met17Thr)	TATDN1 (M17T +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3174312	NM_032026.4(TATDN1):c.356G>A (p.Arg119Gln)	TATDN1 (R119Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3174311	NM_032026.4(TATDN1):c.313G>A (p.Gly105Arg)	TATDN1 (G58R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3174310	NM_032026.4(TATDN1):c.26T>C (p.Ile9Thr)	TATDN1 (I9T)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3174309	NM_032026.4(TATDN1):c.265C>T (p.Pro89Ser)	TATDN1 (P89S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3174308	NM_032026.4(TATDN1):c.25A>G (p.Ile9Val)	TATDN1 (I9V)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3174307	NM_032026.4(TATDN1):c.200A>G (p.Asn67Ser)	TATDN1 (N20S +1 more)	Single nucleotide variant (missense variant +3 more)	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	AARD, ADCK5 +173 more	Copy number gain	not provided	GPathogenic
Select item 2671975	GRCh37/hg19 8q24.13-24.21(chr8:124534271-129054138)x4	ANXA13, FAM91A1 +19 more	Copy number gain	Distal trisomy 8q	GPathogenic
Select item 2615923	NM_032026.4(TATDN1):c.886G>A (p.Gly296Arg)	RNF139, TATDN1 (G151R +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2580301	GRCh37/hg19 8q24.11-24.13(chr8:118185471-126635744)x1	ANXA13, ATAD2 +41 more	Copy number loss	Exostoses, multiple, type 1	GPathogenic
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 2559278	NM_032026.4(TATDN1):c.271C>T (p.Leu91Phe)	TATDN1 (L37F +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2557961	NM_032026.4(TATDN1):c.773A>T (p.Asn258Ile)	TATDN1 (N258I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549135	NM_032026.4(TATDN1):c.13A>C (p.Lys5Gln)	TATDN1 (K5Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2544836	NM_032026.4(TATDN1):c.542A>G (p.Glu181Gly)	TATDN1 (E134G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540447	NM_032026.4(TATDN1):c.73G>T (p.Val25Phe)	TATDN1 (V9F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2496385	NM_032026.4(TATDN1):c.329T>C (p.Ile110Thr)	TATDN1 (I56T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2480934	NM_032026.4(TATDN1):c.496G>A (p.Asp166Asn)	TATDN1 (D112N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2427513	NC_000008.10:g.(?_124515613)_(126379127_?)dup	ANXA13, FAM91A1 +13 more	Duplication	not provided	GUncertain significance
Select item 2425276	NC_000008.10:g.(?_124545411)_(125559374_?)dup	ANXA13, FAM91A1 +8 more	Duplication	not provided	GUncertain significance
Select item 2386533	NM_032026.4(TATDN1):c.878T>C (p.Phe293Ser)	RNF139, TATDN1 (F329S +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2376831	NM_032026.4(TATDN1):c.7C>G (p.Arg3Gly)	TATDN1 (R3G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2352469	NM_032026.4(TATDN1):c.697G>A (p.Ala233Thr)	TATDN1 (A233T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2347302	NM_032026.4(TATDN1):c.746A>G (p.Glu249Gly)	TATDN1 (E195G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270421	NM_032026.4(TATDN1):c.295C>A (p.Leu99Ile)	TATDN1 (L45I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2264119	NM_032026.4(TATDN1):c.299C>G (p.Ala100Gly)	TATDN1 (A53G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2258518	NM_032026.4(TATDN1):c.745G>C (p.Glu249Gln)	TATDN1 (E249Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241921	NM_032026.4(TATDN1):c.827A>G (p.Glu276Gly)	TATDN1 (E222G +4 more)	Single nucleotide variant (missense variant +1 more)	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 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 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 815164	GRCh37/hg19 8q24.13(chr8:124878368-126737708)x3	TRIB1, FER1L6 +10 more	Copy number gain	not provided	GUncertain significance
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 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 687742	GRCh37/hg19 8q24.13(chr8:125310755-125983817)x3	MTSS1, NDUFB9 +4 more	Copy number gain	not provided	GUncertain significance
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 676049	NM_032026.4(TATDN1):c.-8G>A	NDUFB9, TATDN1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 599306	Single allele	PCAT1, POU5F1B +52 more	Deletion	Trichorhinophalangeal dysplasia type I	GPathogenic
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 443122	GRCh37/hg19 8q24.13-24.21(chr8:125539280-128129372)x1	LRATD2, MTSS1 +8 more	Copy number loss	See cases	GUncertain significance
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 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 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 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 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 148271	GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3	ADCK5, ADCY8 +746 more	Copy number gain	See cases	GPathogenic
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 144138	GRCh38/hg38 8q24.13-24.21(chr8:122454392-128513076)x3	LOC130001053, LOC130001054 +285 more	Copy number gain	See cases	GPathogenic
Select item 60403	GRCh38/hg38 8q23.3-24.21(chr8:113288454-126716087)x1	AARD, ANXA13 +314 more	Copy number loss	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 58997	GRCh38/hg38 8q24.13(chr8:124377953-124575712)x1	LOC129390046, LOC130001073 +11 more	Copy number loss	See cases	GUncertain significance
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 57127	GRCh38/hg38 8q24.13(chr8:124125245-125337217)x3	FER1L6-AS2, LINC00964 +78 more	Copy number gain	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

ClinVar

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Links from Gene

Items: 86