ClinVar for Gene (Select 79752) - ClinVar

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Links from Gene

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3192843	NM_024699.3(ZFAND1):c.645G>T (p.Arg215Ser)	ZFAND1 (R208S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192842	NM_024699.3(ZFAND1):c.580G>T (p.Asp194Tyr)	ZFAND1 (D187Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192841	NM_024699.3(ZFAND1):c.577A>C (p.Ile193Leu)	ZFAND1 (I193L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192840	NM_024699.3(ZFAND1):c.331A>G (p.Thr111Ala)	ZFAND1 (T111A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192839	NM_024699.3(ZFAND1):c.284A>C (p.Asp95Ala)	ZFAND1 (D95A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192838	NM_024699.3(ZFAND1):c.136G>A (p.Glu46Lys)	ZFAND1 (E46K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	PREX2, PRKDC +240 more	Copy number gain	not specified	GPathogenic
Select item 3063023	GRCh37/hg19 8q21.13-21.2(chr8:81829690-85172228)x3	CHMP4C, FABP12 +10 more	Copy number gain	not specified	GUncertain significance
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 3063009	GRCh37/hg19 8q21.13(chr8:82540245-82662642)x1	CHMP4C, IMPA1 +2 more	Copy number loss	not specified	GUncertain significance
Select item 2684546	GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3	ANKRD46, ATP6V0D2 +96 more	Copy number gain	not provided	GPathogenic
Select item 2569896	NM_024699.3(ZFAND1):c.503T>G (p.Val168Gly)	ZFAND1 (V161G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551817	NM_024699.3(ZFAND1):c.265A>G (p.Arg89Gly)	ZFAND1 (R89G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545384	NM_024699.3(ZFAND1):c.16A>T (p.Ile6Phe)	ZFAND1 (I6F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532585	NM_024699.3(ZFAND1):c.127G>T (p.Gly43Cys)	ZFAND1 (G43C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477809	NM_024699.3(ZFAND1):c.577A>G (p.Ile193Val)	ZFAND1 (I193V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465315	NM_024699.3(ZFAND1):c.271C>T (p.Arg91Cys)	ZFAND1 (R91C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395925	NM_024699.3(ZFAND1):c.427G>T (p.Val143Phe)	ZFAND1 (V143F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376627	NM_024699.3(ZFAND1):c.427G>A (p.Val143Ile)	ZFAND1 (V143I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808681	GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	AARD, ABRA +141 more	Copy number gain	not provided	GPathogenic
Select item 1807951	GRCh37/hg19 8q21.12-21.13(chr8:79876744-83112711)x3	CHMP4C, FABP12 +15 more	Copy number gain	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 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527449	GRCh37/hg19 8q21.13(chr8:82353502-82673333)	CHMP4C, FABP12 +6 more	Copy number gain	not specified	GUncertain significance
Select item 1527447	GRCh37/hg19 8q21.13(chr8:82349850-84358646)	CHMP4C, FABP12 +7 more	Copy number loss	not specified	GUncertain significance
Select item 1527444	GRCh37/hg19 8q21.11-21.3(chr8:77906471-88917707)	ATP6V0D2, CA1 +36 more	Copy number loss	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 1341980	GRCh37/hg19 8q21.11-21.3(chr8:75904944-87097083)x1	CA1, CA13 +31 more	Copy number loss	Chromosome 8q21.11 deletion syndrome	GPathogenic
Select item 1340788	GRCh37/hg19 8q21.13-21.2(chr8:81829690-85173253)x3	CHMP4C, FABP12 +10 more	Copy number gain	not provided	GUncertain significance
Select item 815139	GRCh37/hg19 8q21.13(chr8:82581743-82652385)x1	ZFAND1, CHMP4C +2 more	Copy number loss	not provided	GUncertain significance
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 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 687123	GRCh37/hg19 8q21.13-21.2(chr8:82196649-85352499)x1	CHMP4C, FABP12 +9 more	Copy number loss	not provided	GUncertain significance
Select item 686230	GRCh37/hg19 8q21.13(chr8:82276728-82641699)x1	FABP12, FABP4 +5 more	Copy number loss	not provided	GUncertain significance
Select item 563473	GRCh37/hg19 8q21.13(chr8:82603894-82862754)x3	SLC10A5, ZFAND1 +2 more	Copy number gain	not provided	GLikely benign
Select item 443624	GRCh37/hg19 8q21.11-21.13(chr8:77751515-83516216)x1	CHMP4C, FABP12 +20 more	Copy number loss	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 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 442124	GRCh37/hg19 8q21.13(chr8:82534933-83229899)x3	CHMP4C, IMPA1 +3 more	Copy number gain	See cases	GUncertain significance
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 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 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 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 148749	GRCh38/hg38 8q21.13(chr8:81188681-82043830)x3	CHMP4C, FABP12 +19 more	Copy number gain	See cases	GLikely benign
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000591, LOC130000592 +470 more	Copy number gain	See cases	GPathogenic
Select item 60380	GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1	LOC130000705, LOC130000706 +327 more	Copy number loss	See cases	GPathogenic
Select item 60379	GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1	ATP6V0D2, C8orf88 +217 more	Copy number loss	See cases	GPathogenic
Select item 60377	GRCh38/hg38 8q21.11-21.2(chr8:73879385-85611466)x1	LOC130000646, LOC130000647 +191 more	Copy number loss	See cases	GPathogenic
Select item 59788	GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3	ADHFE1, ARFGEF1 +417 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 57417	GRCh38/hg38 8q21.11-21.13(chr8:73519300-82655582)x1	CASC9, CHMP4C +169 more	Copy number loss	See cases	GPathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 57