SPATA13[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	LOC121466733, LOC121468000 +2048 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130010147, LOC130010148 +2049 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009360, LOC130009361 +2047 more	Copy number gain	See cases	GPathogenic
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	PDS5B, PDX1 +566 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	LOC130009909, LOC130009910 +2044 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	LINC00333, LINC00343 +2045 more	Copy number gain	See cases	GPathogenic
Select item 153502	GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3	ALOX5AP, AMER2 +488 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC112163664, LOC112163665 +2040 more	Copy number gain	See cases	GPathogenic
Select item 59861	GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	USPL1, WASF3 +415 more	Copy number gain	See cases	GPathogenic
Select item 155130	GRCh38/hg38 13q12.11-12.13(chr13:19671934-24985872)x1	ATP12A, C1QTNF9 +181 more	Copy number loss	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC121838573, LOC121838574 +2028 more	Copy number gain	See cases	GPathogenic
Select item 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC130009528, LOC130009529 +620 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	URAD, USP12 +2024 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LINC00462, LINC00463 +2021 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 146307	GRCh38/hg38 13q12.12(chr13:22764286-24444616)x3	C1QTNF9, C1QTNF9B +62 more	Copy number gain	See cases	GLikely benign
Select item 1684647	NC_000013.11:g.22924987_24337204del	LOC130009378, LOC130009379 +57 more	Deletion	See cases	GUncertain significance
Select item 57578	GRCh38/hg38 13q12.12(chr13:22941375-24286142)x3	C1QTNF9B, LINC00327 +55 more	Copy number gain	See cases	GUncertain significance
Select item 151247	GRCh38/hg38 13q12.12(chr13:22943845-24336546)x3	C1QTNF9, C1QTNF9B +57 more	Copy number gain	See cases	GUncertain significance
Select item 149939	GRCh38/hg38 13q12.12(chr13:22943845-24355293)x3	C1QTNF9, C1QTNF9B +57 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 151376	GRCh38/hg38 13q12.12(chr13:22959219-24384434)x3	C1QTNF9, C1QTNF9B +57 more	Copy number gain	See cases	GUncertain significance
Select item 545158	NC_000013.11:g.(?_22968338)_(24323208_?)del	LOC130009386, LOC130009387 +55 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 57579	GRCh38/hg38 13q12.12(chr13:22980339-24363444)x3	C1QTNF9, C1QTNF9B +55 more	Copy number gain	See cases	GUncertain significance
Select item 151244	GRCh38/hg38 13q12.12(chr13:22980365-24336546)x3	C1QTNF9, C1QTNF9B +55 more	Copy number gain	See cases	GUncertain significance
Select item 149152	GRCh38/hg38 13q12.12(chr13:22980365-24370481)x3	C1QTNF9, C1QTNF9B +55 more	Copy number gain	See cases	GUncertain significance
Select item 57520	GRCh38/hg38 13q12.12(chr13:22992823-24316005)x1	C1QTNF9, C1QTNF9B +54 more	Copy number loss	See cases	GUncertain significance
Select item 33369	GRCh38/hg38 13q12.12(chr13:22992823-24336605)x3	C1QTNF9, C1QTNF9B +55 more	Copy number gain	See cases	GUncertain significance
Select item 144578	GRCh38/hg38 13q12.12(chr13:22992950-24336636)x1	C1QTNF9, C1QTNF9B +55 more	Copy number loss	See cases	GUncertain significance
Select item 145530	GRCh38/hg38 13q12.12(chr13:23045243-24253602)x1	C1QTNF9B, LINC00327 +47 more	Copy number loss	See cases	GUncertain significance
Select item 57252	GRCh38/hg38 13q12.12(chr13:23518725-24153706)x1	C1QTNF9B, LOC121466729 +22 more	Copy number loss	See cases	GUncertain significance
Select item 145024	GRCh38/hg38 13q12.12(chr13:24202115-24336546)x3	C1QTNF9, LINC00566 +12 more	Copy number gain	See cases	GBenign
Select item 3038489	NM_001166271.3(SPATA13):c.-61C>T	SPATA13	Single nucleotide variant (5 prime UTR variant +2 more)	SPATA13-related disorder	GBenign
Select item 2403222	NM_001166271.3(SPATA13):c.8A>G (p.Gln3Arg)	SPATA13 (Q3R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518798	NM_001166271.3(SPATA13):c.16G>A (p.Val6Met)	SPATA13 (V68M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272544	NM_001166271.3(SPATA13):c.20G>A (p.Arg7Gln)	SPATA13 (R69Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2561041	NM_001166271.3(SPATA13):c.44A>T (p.Asn15Ile)	SPATA13 (N77I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296317	NM_001166271.3(SPATA13):c.44A>G (p.Asn15Ser)	SPATA13 (N77S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330515	NM_001166271.3(SPATA13):c.70G>A (p.Gly24Arg)	SPATA13 (G86R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245289	NM_001166271.3(SPATA13):c.86C>T (p.Ala29Val)	SPATA13 (A91V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3041432	NM_001166271.3(SPATA13):c.102G>A (p.Ser34=)	SPATA13	Single nucleotide variant (synonymous variant +1 more)	SPATA13-related disorder	GLikely benign
Select item 2242223	NM_001166271.3(SPATA13):c.124G>A (p.Val42Met)	SPATA13 (V104M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251156	NM_001166271.3(SPATA13):c.133C>T (p.Leu45Phe)	SPATA13 (L107F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558161	NM_001166271.3(SPATA13):c.151G>A (p.Val51Ile)	SPATA13 (V113I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3039247	NM_001166271.3(SPATA13):c.174C>T (p.Gly58=)	SPATA13	Single nucleotide variant (synonymous variant +1 more)	SPATA13-related disorder	GLikely benign
Select item 2386061	NM_001166271.3(SPATA13):c.191A>T (p.Glu64Val)	SPATA13 (E64V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311349	NM_001166271.3(SPATA13):c.218T>C (p.Val73Ala)	SPATA13 (V135A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3035879	NM_001166271.3(SPATA13):c.266G>C (p.Arg89Pro)	SPATA13 (R151P +1 more)	Single nucleotide variant (missense variant +1 more)	SPATA13-related disorder	GBenign
Select item 3168201	NM_001166271.3(SPATA13):c.383G>A (p.Arg128Gln)	SPATA13 (R190Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311483	NM_001166271.3(SPATA13):c.395A>T (p.Asn132Ile)	SPATA13 (N194I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213090	NM_001166271.3(SPATA13):c.418T>G (p.Ser140Ala)	SPATA13 (S202A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220415	NM_001166271.3(SPATA13):c.419C>T (p.Ser140Leu)	SPATA13 (S140L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2288889	NM_001166271.3(SPATA13):c.496C>G (p.Pro166Ala)	SPATA13 (P228A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3042921	NM_001166271.3(SPATA13):c.497C>T (p.Pro166Leu)	SPATA13 (P166L +1 more)	Single nucleotide variant (missense variant +1 more)	SPATA13-related disorder	GLikely benign
Select item 3168202	NM_001166271.3(SPATA13):c.500G>T (p.Gly167Val)	SPATA13 (G167V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249803	NM_001166271.3(SPATA13):c.523C>T (p.Pro175Ser)	SPATA13 (P237S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491988	NM_001166271.3(SPATA13):c.579C>A (p.Phe193Leu)	SPATA13 (F193L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168203	NM_001166271.3(SPATA13):c.610C>T (p.Arg204Cys)	SPATA13 (R204C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168204	NM_001166271.3(SPATA13):c.611G>A (p.Arg204His)	SPATA13 (R266H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168205	NM_001166271.3(SPATA13):c.707A>G (p.Glu236Gly)	SPATA13 (E236G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3048001	NM_001166271.3(SPATA13):c.714C>T (p.Leu238=)	SPATA13	Single nucleotide variant (synonymous variant +1 more)	SPATA13-related disorder	GLikely benign
Select item 2316206	NM_001166271.3(SPATA13):c.768C>G (p.Asp256Glu)	SPATA13 (D318E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618037	NM_001166271.3(SPATA13):c.790A>G (p.Ser264Gly)	SPATA13 (S326G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168206	NM_001166271.3(SPATA13):c.829C>T (p.Leu277Phe)	SPATA13 (L277F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315312	NM_001166271.3(SPATA13):c.835A>G (p.Thr279Ala)	SPATA13 (T341A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3042282	NM_001166271.3(SPATA13):c.840C>T (p.Ala280=)	SPATA13	Single nucleotide variant (synonymous variant +1 more)	SPATA13-related disorder	GLikely benign
Select item 2536779	NM_001166271.3(SPATA13):c.884C>T (p.Thr295Ile)	SPATA13 (T357I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168177	NM_001166271.3(SPATA13):c.1013G>A (p.Arg338Lys)	SPATA13 (R338K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2311482	NM_001166271.3(SPATA13):c.1066C>T (p.Arg356Trp)	SPATA13 (R356W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478098	NM_001166271.3(SPATA13):c.1072C>T (p.His358Tyr)	SPATA13 (H358Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168178	NM_001166271.3(SPATA13):c.1081T>C (p.Tyr361His)	SPATA13 (Y361H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515887	NM_001166271.3(SPATA13):c.1124G>A (p.Arg375Gln)	SPATA13 (R437Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3044180	NM_001166271.3(SPATA13):c.1154C>T (p.Ala385Val)	SPATA13 (A385V +1 more)	Single nucleotide variant (missense variant +1 more)	SPATA13-related disorder	GBenign
Select item 3168179	NM_001166271.3(SPATA13):c.1165G>A (p.Val389Met)	SPATA13 (V389M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2314472	NM_001166271.3(SPATA13):c.1172C>G (p.Pro391Arg)	SPATA13 (P453R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211416	NM_001166271.3(SPATA13):c.1192T>C (p.Ser398Pro)	SPATA13 (S398P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168180	NM_001166271.3(SPATA13):c.1367A>G (p.Asp456Gly)	SPATA13 (D456G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622999	NM_001166271.3(SPATA13):c.1397C>T (p.Pro466Leu)	SPATA13 (P466L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3045952	NM_001166271.3(SPATA13):c.1401C>T (p.Thr467=)	SPATA13	Single nucleotide variant (synonymous variant +1 more)	SPATA13-related disorder	GLikely benign
Select item 3057203	NM_001166271.3(SPATA13):c.1439C>T (p.Pro480Leu)	SPATA13 (P480L +1 more)	Single nucleotide variant (missense variant +1 more)	SPATA13-related disorder	GBenign
Select item 3168181	NM_001166271.3(SPATA13):c.1441G>A (p.Gly481Arg)	SPATA13 (G481R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363967	NM_001166271.3(SPATA13):c.1565T>C (p.Leu522Pro)	SPATA13 (L584P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411091	NM_001166271.3(SPATA13):c.1633G>A (p.Glu545Lys)	SPATA13 (E607K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385972	NM_001166271.3(SPATA13):c.1657G>A (p.Val553Ile)	SPATA13 (V615I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331163	NM_001166271.3(SPATA13):c.1661C>G (p.Pro554Arg)	SPATA13 (P554R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558228	NM_001166271.3(SPATA13):c.1670C>T (p.Pro557Leu)	SPATA13 (P619L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227075	NM_001166271.3(SPATA13):c.1750C>T (p.Arg584Trp)	SPATA13 (R584W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507630	NM_001166271.3(SPATA13):c.1770C>A (p.Phe590Leu)	SPATA13 (F652L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3168182	NM_001166271.3(SPATA13):c.1778A>G (p.Tyr593Cys)	SPATA13 (Y593C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214947	NM_001166271.3(SPATA13):c.1787T>C (p.Leu596Pro)	SPATA13 (L596P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3168183	NM_001166271.3(SPATA13):c.1849C>T (p.Arg617Cys)	SPATA13 (R679C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352159	NM_001166271.3(SPATA13):c.1871C>A (p.Ala624Glu)	SPATA13 (A686E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473599	NM_001166271.3(SPATA13):c.1925A>G (p.Lys642Arg)	SPATA13 (K17R +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3168184	NM_001166271.3(SPATA13):c.1931C>A (p.Ala644Asp)	SPATA13 (A644D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056629	NM_001166271.3(SPATA13):c.1933C>T (p.Arg645Trp)	SPATA13 (R20W +2 more)	Single nucleotide variant (missense variant)	SPATA13-related disorder	GBenign
Select item 3168185	NM_001166271.3(SPATA13):c.1942C>T (p.Arg648Cys)	SPATA13 (R23C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060272	NM_001166271.3(SPATA13):c.1967T>C (p.Val656Ala)	SPATA13 (V31A +2 more)	Single nucleotide variant (missense variant)	SPATA13-related disorder	GBenign
Select item 3040085	NM_001166271.3(SPATA13):c.1991C>T (p.Thr664Met)	SPATA13 (T39M +2 more)	Single nucleotide variant (missense variant)	SPATA13-related disorder	GLikely benign
Select item 2232200	NM_001166271.3(SPATA13):c.2000T>C (p.Leu667Pro)	SPATA13 (L729P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598479	NM_001166271.3(SPATA13):c.2021C>T (p.Pro674Leu)	SPATA13 (P736L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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