ClinVar for Gene (Select 5462) - ClinVar

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Links from Gene

Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3309052	NM_001159542.3(POU5F1B):c.1063C>T (p.Pro355Ser)	CASC8, POU5F1B (P355S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309051	NM_001159542.3(POU5F1B):c.386T>C (p.Leu129Pro)	CASC8, POU5F1B (L129P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309050	NM_001159542.3(POU5F1B):c.595A>G (p.Lys199Glu)	CASC8, POU5F1B (K199E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309049	NM_001159542.3(POU5F1B):c.323A>G (p.Asn108Ser)	CASC8, POU5F1B (N108S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216970	NM_001159542.3(POU5F1B):c.962C>G (p.Thr321Ser)	CASC8, POU5F1B (T321S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216969	NM_001159542.3(POU5F1B):c.73G>C (p.Ala25Pro)	CASC8, POU5F1B (A25P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216966	NM_001159542.3(POU5F1B):c.449C>G (p.Ala150Gly)	CASC8, POU5F1B (A150G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216965	NM_001159542.3(POU5F1B):c.341C>G (p.Pro114Arg)	POU5F1B, CASC8 (P114R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216964	NM_001159542.3(POU5F1B):c.265G>A (p.Gly89Ser)	CASC8, POU5F1B (G89S)	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	GSDMC, LY6D +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 2658808	NM_001159542.3(POU5F1B):c.1044C>T (p.Ser348=)	CASC8, POU5F1B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2609106	NM_001159542.3(POU5F1B):c.161G>C (p.Gly54Ala)	CASC8, POU5F1B (G54A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596205	NM_001159542.3(POU5F1B):c.664A>G (p.Lys222Glu)	CASC8, POU5F1B (K222E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579176	GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3	LOC130001241, LOC130001242 +559 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2559832	NM_001159542.3(POU5F1B):c.168G>T (p.Glu56Asp)	CASC8, POU5F1B (E56D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529461	NM_001159542.3(POU5F1B):c.557G>C (p.Arg186Pro)	CASC8, POU5F1B (R186P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472555	NM_001159542.3(POU5F1B):c.304G>A (p.Gly102Arg)	CASC8, POU5F1B (G102R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405022	NM_001159542.3(POU5F1B):c.344G>A (p.Cys115Tyr)	CASC8, POU5F1B (C115Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389405	NM_001159542.3(POU5F1B):c.421G>T (p.Ala141Ser)	CASC8, POU5F1B (A141S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371625	NM_001159542.3(POU5F1B):c.212G>C (p.Gly71Ala)	CASC8, POU5F1B (G71A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361365	NM_001159542.3(POU5F1B):c.841C>T (p.Arg281Cys)	CASC8, POU5F1B (R281C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359375	NM_001159542.3(POU5F1B):c.958G>C (p.Gly320Arg)	CASC8, POU5F1B (G320R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350664	NM_001159542.3(POU5F1B):c.355C>G (p.Pro119Ala)	CASC8, POU5F1B (P119A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302247	NM_001159542.3(POU5F1B):c.679A>G (p.Met227Val)	CASC8, POU5F1B (M227V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286800	NM_001159542.3(POU5F1B):c.875C>G (p.Ala292Gly)	CASC8, POU5F1B (A292G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245688	NM_001159542.3(POU5F1B):c.530A>C (p.Lys177Thr)	CASC8, POU5F1B (K177T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236834	NM_001159542.3(POU5F1B):c.738G>T (p.Glu246Asp)	CASC8, POU5F1B (E246D)	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 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 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 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	BAALC, CNOT7 +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	HSF1, HTRA4 +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 625635	GRCh37/hg19 8q24.13-24.21(chr8:127185755-128672802)	LRATD2, PCAT1 +1 more	Copy number loss	not provided	GPathogenic
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	AARD, ABRA +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 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +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	SCRT1, SCX +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 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 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 154743	GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3	LOC130001173, LOC130001174 +1068 more	Copy number gain	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	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 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 153231	GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3	LOC130000987, LOC130000988 +1205 more	Copy number gain	See cases	GPathogenic
Select item 151754	GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3	AARD, ABRA +1330 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 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 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 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 +1153 more	Copy number gain	See cases	GPathogenic
Select item 144949	GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3	LOC130001226, LOC130001227 +1407 more	Copy number gain	See cases	GPathogenic
Select item 144138	GRCh38/hg38 8q24.13-24.21(chr8:122454392-128513076)x3	ANXA13, ATAD2 +286 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 57128	GRCh38/hg38 8q24.21(chr8:127118340-127858575)x3	CASC11, CASC19 +46 more	Copy number gain	See cases	GPathogenic
Select item 57045	GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3	LOC130001070, LOC130001071 +962 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: 78