1618[Gene ID] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936198, LOC129936199 +647 more	Copy number gain	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	LOC129936421, LOC129936422 +962 more	Copy number gain	See cases	GPathogenic
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 57978	GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3	LOC132088948, LOC132088950 +730 more	Copy number gain	See cases	GPathogenic
Select item 1703229	Single allele	HDAC11, LOC126806611 +244 more	Deletion	3p- syndrome	GPathogenic
Select item 155700	GRCh38/hg38 3p25.1-24.3(chr3:14360747-21656134)x4	LOC132088880, LOC132088882 +214 more	Copy number gain	See cases	GPathogenic
Select item 3080147	NM_001351.4(DAZL):c.822T>A (p.Asp274Glu)	DAZL (D274E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216230	NM_001351.4(DAZL):c.749G>A (p.Arg250Gln)	DAZL (R250Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059559	NM_001351.4(DAZL):c.736-9G>A	DAZL	Single nucleotide variant (intron variant)	DAZL-related disorder	GBenign
Select item 2495356	NM_001351.4(DAZL):c.725G>A (p.Gly242Asp)	DAZL (G242D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535810	NM_001351.4(DAZL):c.698A>G (p.His233Arg)	DAZL (H253R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543260	NM_001351.4(DAZL):c.662C>T (p.Pro221Leu)	DAZL (P241L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589913	NM_001351.4(DAZL):c.643C>A (p.His215Asn)	DAZL (H215N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270915	NM_001351.4(DAZL):c.602G>A (p.Arg201Lys)	DAZL (R201K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458944	NM_001351.4(DAZL):c.577C>T (p.Pro193Ser)	DAZL (P213S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604485	NM_001351.4(DAZL):c.571A>T (p.Met191Leu)	DAZL (M191L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056257	NM_001351.4(DAZL):c.571-4dup	DAZL	Duplication (intron variant)	DAZL-related disorder	GBenign
Select item 3049955	NM_001351.4(DAZL):c.552G>A (p.Leu184=)	DAZL	Single nucleotide variant (synonymous variant)	DAZL-related disorder	GLikely benign
Select item 2591883	NM_001351.4(DAZL):c.548A>G (p.Gln183Arg)	DAZL (Q183R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294932	NM_001351.4(DAZL):c.532G>T (p.Val178Phe)	DAZL (V178F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617159	NM_001351.4(DAZL):c.494T>C (p.Val165Ala)	DAZL (V165A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307113	NM_001351.4(DAZL):c.435T>G (p.Asn145Lys)	DAZL (N165K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039325	NM_001351.4(DAZL):c.405T>C (p.Pro135=)	DAZL	Single nucleotide variant (synonymous variant)	DAZL-related disorder	GBenign
Select item 3080146	NM_001351.4(DAZL):c.398A>G (p.His133Arg)	DAZL (H133R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211053	NM_001351.4(DAZL):c.395A>G (p.Asn132Ser)	DAZL (N152S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080145	NM_001351.4(DAZL):c.304A>C (p.Asn102His)	DAZL (N122H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580171	NM_001351.4(DAZL):c.231T>G (p.Gly77=)	DAZL	Single nucleotide variant (synonymous variant)	Idiopathic male infertility	Gassociation
Select item 2580170	NM_001351.4(DAZL):c.231T>A (p.Gly77=)	DAZL	Single nucleotide variant (synonymous variant)	Idiopathic male infertility	Gassociation
Select item 2580169	NM_001351.4(DAZL):c.220dup (p.Asp74fs)	DAZL (D74fs +1 more)	Duplication (frameshift variant)	Idiopathic male infertility	GPathogenic
Select item 2580168	NM_001351.4(DAZL):c.197T>A (p.Val66Glu)	DAZL (V66E +1 more)	Single nucleotide variant (missense variant)	Idiopathic male infertility	GLikely pathogenic
Select item 2580167	NM_001351.4(DAZL):c.193T>A (p.Ser65Thr)	DAZL (S65T +1 more)	Single nucleotide variant (missense variant)	Idiopathic male infertility	GBenign
Select item 3080144	NM_001351.4(DAZL):c.185G>A (p.Arg62Lys)	DAZL (R82K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580166	NM_001351.4(DAZL):c.165G>C (p.Glu55Asp)	DAZL (E55D +1 more)	Single nucleotide variant (missense variant)	Idiopathic male infertility	GBenign
Select item 8145	NM_001351.4(DAZL):c.160A>G (p.Thr54Ala)	DAZL (T54A +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure, susceptibility to	Grisk factor
Select item 3060713	NM_001351.4(DAZL):c.34A>G (p.Thr12Ala)	DAZL (T12A +1 more)	Single nucleotide variant (missense variant)	DAZL-related disorder	GBenign
Select item 3270914	NM_001351.4(DAZL):c.14A>G (p.Asn5Ser)	DAZL (N5S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598497	NM_001351.4(DAZL):c.7A>G (p.Thr3Ala)	DAZL (T3A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3057075	NM_001351.4(DAZL):c.3+717G>A	DAZL (C6Y)	Single nucleotide variant (missense variant +1 more)	DAZL-related disorder	GBenign
Select item 3242334	GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3	ANKRD28, ARL8B +145 more	Copy number gain	not provided	GPathogenic
Select item 3062708	GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3	OXTR, PDCD6IP +145 more	Copy number gain	not specified	GPathogenic
Select item 2685895	GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3	ANKRD28, ARL8B +121 more	Copy number gain	not provided	GPathogenic
Select item 1708466	GRCh37/hg19 3p25.1-24.2(chr3:13836340-25357427)x3	ANKRD28, BTD +41 more	Copy number gain	See cases	GPathogenic
Select item 1526968	GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)	FANCD2OS, THUMPD3 +148 more	Copy number gain	not specified	GPathogenic
Select item 1526967	GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)	ANKRD28, ARL8B +112 more	Copy number gain	not specified	GPathogenic
Select item 562744	GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3	ANKRD28, ARL8B +84 more	Copy number gain	not provided	GPathogenic
Select item 562726	GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3	ANKRD28, ARL8B +98 more	Copy number gain	not provided	GPathogenic
Select item 443469	GRCh37/hg19 3p25.1-24.3(chr3:13720222-17808236)x1	ANKRD28, BTD +27 more	Copy number loss	See cases	GLikely pathogenic
Select item 443464	GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3	ANKRD28, APRG1 +155 more	Copy number gain	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 441705	GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3	TRIM71, TRNT1 +145 more	Copy number gain	See cases	GPathogenic

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Items: 53