SPACA1[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 155438	GRCh38/hg38 6q14.1-16.1(chr6:75926199-92710793)x1	AKIRIN2, ANKRD6 +299 more	Copy number loss	See cases	GPathogenic
Select item 58438	GRCh38/hg38 6q14.1-16.1(chr6:82569098-93753476)x1	AKIRIN2, ANKRD6 +220 more	Copy number loss	See cases	GPathogenic
Select item 146487	GRCh38/hg38 6q14.2-16.1(chr6:83838303-98822313)x1	SMIM8, SNHG5 +247 more	Copy number loss	See cases	GPathogenic
Select item 147590	GRCh38/hg38 6q14.3-15(chr6:85370716-90669793)x1	AKIRIN2, ANKRD6 +157 more	Copy number loss	See cases	GPathogenic
Select item 146127	GRCh38/hg38 6q14.3-16.1(chr6:85804273-93189258)x1	LOC129389576, LOC129389577 +153 more	Copy number loss	See cases	GPathogenic
Select item 2577471	NM_030960.3(SPACA1):c.53G>A (p.Trp18Ter)	SPACA1 (W18*)	Single nucleotide variant (nonsense)	Spermatogenic failure 85	GPathogenic
Select item 3167979	NM_030960.3(SPACA1):c.98C>T (p.Thr33Ile)	SPACA1 (T33I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473661	NM_030960.3(SPACA1):c.160A>C (p.Asn54His)	SPACA1 (N54H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257168	NM_030960.3(SPACA1):c.182A>G (p.Asn61Ser)	SPACA1 (N61S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321734	NM_030960.3(SPACA1):c.218G>A (p.Arg73Lys)	SPACA1 (R73K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167973	NM_030960.3(SPACA1):c.236T>C (p.Val79Ala)	SPACA1 (V79A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167974	NM_030960.3(SPACA1):c.244G>A (p.Gly82Arg)	SPACA1 (G82R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603071	NM_030960.3(SPACA1):c.247A>C (p.Met83Leu)	SPACA1 (M83L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494518	NM_030960.3(SPACA1):c.253A>G (p.Thr85Ala)	SPACA1 (T85A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167975	NM_030960.3(SPACA1):c.400G>C (p.Val134Leu)	SPACA1 (V134L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167976	NM_030960.3(SPACA1):c.443A>C (p.Lys148Thr)	SPACA1 (K148T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269060	NM_030960.3(SPACA1):c.448A>G (p.Met150Val)	SPACA1 (M150V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229815	NM_030960.3(SPACA1):c.511G>A (p.Glu171Lys)	SPACA1 (E171K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394632	NM_030960.3(SPACA1):c.527G>A (p.Ser176Asn)	SPACA1 (S176N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3167977	NM_030960.3(SPACA1):c.551A>G (p.Asp184Gly)	SPACA1 (D184G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611592	NM_030960.3(SPACA1):c.557T>A (p.Leu186Gln)	SPACA1 (L186Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290456	NM_030960.3(SPACA1):c.620T>C (p.Met207Thr)	SPACA1 (M207T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595989	NM_030960.3(SPACA1):c.632G>A (p.Ser211Asn)	SPACA1 (S211N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321733	NM_030960.3(SPACA1):c.683T>C (p.Ile228Thr)	SPACA1 (I228T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321736	NM_030960.3(SPACA1):c.686T>C (p.Ile229Thr)	SPACA1 (I229T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511535	NM_030960.3(SPACA1):c.689G>A (p.Cys230Tyr)	SPACA1 (C230Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321735	NM_030960.3(SPACA1):c.710T>G (p.Leu237Trp)	SPACA1 (L237W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288344	NM_030960.3(SPACA1):c.744G>T (p.Lys248Asn)	SPACA1 (K248N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400836	NM_030960.3(SPACA1):c.757G>A (p.Ala253Thr)	SPACA1 (A253T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239562	NM_030960.3(SPACA1):c.793A>C (p.Ser265Arg)	SPACA1 (S265R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244169	NM_030960.3(SPACA1):c.800T>G (p.Val267Gly)	SPACA1 (V267G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3167978	NM_030960.3(SPACA1):c.844A>G (p.Met282Val)	SPACA1 (M282V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685209	GRCh37/hg19 6q15-16.1(chr6:88018122-94565168)x1	AKIRIN2, ANKRD6 +24 more	Copy number loss	not provided	GPathogenic
Select item 1711170	GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)x1	AKIRIN2, ANKRD6 +65 more	Copy number loss	See cases	GUncertain significance
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	AFG1L, AK9 +138 more	Copy number loss	not specified	GPathogenic
Select item 1527249	GRCh37/hg19 6q12-16.1(chr6:69938252-94379210)	BACH2, ADGRB3 +88 more	Copy number gain	not specified	GPathogenic
Select item 816499	GRCh37/hg19 6q15(chr6:88412786-89246061)x3	CNR1, SPACA1	Copy number gain	See cases	GUncertain significance
Select item 814842	GRCh37/hg19 6q14.3-15(chr6:86024761-90023713)x1	CNR1, SLC35A1 +23 more	Copy number loss	not provided	GPathogenic
Select item 688276	GRCh37/hg19 6q14.3-16.1(chr6:87627836-93698486)x1	AKIRIN2, ANKRD6 +26 more	Copy number loss	not provided	GUncertain significance
Select item 563199	GRCh37/hg19 6q14.1-16.1(chr6:81261418-97796269)x3	AKIRIN2, ANKRD6 +56 more	Copy number gain	not provided	GPathogenic
Select item 560055	Single allele	AKIRIN2, ANKRD6 +44 more	Deletion	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 44