30579[HGNC] - ClinVar

Search results

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	LOC130008692, LOC130008693 +316 more	Copy number loss	See cases	GPathogenic
Select item 149538	GRCh38/hg38 12q23.3-24.11(chr12:105644967-108994840)x1	ABTB3, ASCL4 +122 more	Copy number loss	See cases	GUncertain significance
Select item 3322808	NM_018984.4(SSH1):c.3130T>C (p.Ser1044Pro)	SSH1 (S1044P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488788	NM_018984.4(SSH1):c.3114A>C (p.Glu1038Asp)	SSH1 (E1038D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322807	NM_018984.4(SSH1):c.3091C>G (p.Pro1031Ala)	SSH1 (P1031A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454556	NM_018984.4(SSH1):c.3023C>T (p.Thr1008Ile)	SSH1 (T1008I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 744638	NM_018984.4(SSH1):c.2982T>G (p.Ser994Arg)	SSH1 (S994R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2406873	NM_018984.4(SSH1):c.2833C>T (p.Arg945Cys)	SSH1 (R945C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170379	NM_018984.4(SSH1):c.2770A>T (p.Thr924Ser)	SSH1 (T924S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387692	NM_018984.4(SSH1):c.2767C>T (p.Pro923Ser)	SSH1 (P923S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300364	NM_018984.4(SSH1):c.2756T>C (p.Ile919Thr)	SSH1 (I919T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532021	NM_018984.4(SSH1):c.2716G>A (p.Asp906Asn)	SSH1 (D906N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344724	NM_018984.4(SSH1):c.2711G>A (p.Arg904His)	SSH1 (R904H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322805	NM_018984.4(SSH1):c.2692C>T (p.Pro898Ser)	SSH1 (P898S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341844	NM_018984.4(SSH1):c.2657C>A (p.Ala886Asp)	SSH1 (A886D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210178	NM_018984.4(SSH1):c.2656G>A (p.Ala886Thr)	SSH1 (A886T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531250	NM_018984.4(SSH1):c.2632G>A (p.Gly878Arg)	SSH1 (G878R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322804	NM_018984.4(SSH1):c.2599G>A (p.Glu867Lys)	SSH1 (E867K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553948	NM_018984.4(SSH1):c.2597A>C (p.His866Pro)	SSH1 (H866P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387189	NM_018984.4(SSH1):c.2558C>T (p.Ala853Val)	SSH1 (A853V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170378	NM_018984.4(SSH1):c.2519C>G (p.Ala840Gly)	SSH1 (A840G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322810	NM_018984.4(SSH1):c.2492G>A (p.Arg831Gln)	SSH1 (R831Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170377	NM_018984.4(SSH1):c.2269T>G (p.Leu757Val)	SSH1 (L757V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043810	NM_018984.4(SSH1):c.2261C>T (p.Ser754Phe)	SSH1 (S754F)	Single nucleotide variant (missense variant)	SSH1-related disorder	GLikely benign
Select item 3170376	NM_018984.4(SSH1):c.2242C>T (p.Pro748Ser)	SSH1 (P748S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776749	NM_018984.4(SSH1):c.2143C>G (p.Leu715Val)	SSH1 (L715V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2244072	NM_018984.4(SSH1):c.2138C>T (p.Pro713Leu)	SSH1 (P713L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3170375	NM_018984.4(SSH1):c.2117C>G (p.Ser706Cys)	SSH1 (S706C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372355	NM_018984.4(SSH1):c.2109G>C (p.Lys703Asn)	SSH1 (K703N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1301754	NM_018984.4(SSH1):c.2102C>T (p.Pro701Leu)	SSH1 (P701L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3170374	NM_018984.4(SSH1):c.2096G>A (p.Arg699His)	SSH1 (R699H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250352	NM_018984.4(SSH1):c.2090G>A (p.Arg697Lys)	SSH1 (R697K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322812	NM_018984.4(SSH1):c.2060C>T (p.Thr687Met)	SSH1 (T687M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042086	NM_018984.4(SSH1):c.2033C>T (p.Thr678Ile)	SSH1 (T678I)	Single nucleotide variant (missense variant)	SSH1-related disorder	GLikely benign
Select item 2346021	NM_018984.4(SSH1):c.2023G>A (p.Ala675Thr)	SSH1 (A675T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346020	NM_018984.4(SSH1):c.2015A>G (p.Asn672Ser)	SSH1 (N672S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2549103	NM_018984.4(SSH1):c.1994G>A (p.Arg665Lys)	SSH1 (R665K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305064	NM_018984.4(SSH1):c.1882A>G (p.Asn628Asp)	SSH1 (N628D +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2394226	NM_018984.4(SSH1):c.1844C>T (p.Ser615Leu)	SSH1 (S615L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296522	NM_018984.4(SSH1):c.1825G>C (p.Asp609His)	SSH1 (D620H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483659	NM_018984.4(SSH1):c.1801T>G (p.Trp601Gly)	SSH1 (W601G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170372	NM_018984.4(SSH1):c.1768A>G (p.Thr590Ala)	SSH1 (T601A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297761	NM_018984.4(SSH1):c.1738C>T (p.Arg580Trp)	SSH1 (R580W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356452	NM_018984.4(SSH1):c.1730C>T (p.Pro577Leu)	SSH1 (P577L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544654	NM_018984.4(SSH1):c.1541T>A (p.Leu514His)	SSH1 (L514H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170370	NM_018984.4(SSH1):c.1519C>G (p.Leu507Val)	SSH1 (L507V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1301753	NM_018984.4(SSH1):c.1495G>A (p.Ala499Thr)	SSH1 (A499T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3034288	NM_018984.4(SSH1):c.1454A>T (p.Asp485Val)	SSH1 (D485V +1 more)	Single nucleotide variant (missense variant)	SSH1-related disorder	GLikely benign
Select item 2643266	NM_018984.4(SSH1):c.1450C>T (p.Pro484Ser)	SSH1 (P484S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2257290	NM_018984.4(SSH1):c.1289C>T (p.Thr430Met)	SSH1 (T430M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407298	NM_018984.4(SSH1):c.1189G>T (p.Val397Leu)	SSH1 (V397L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170369	NM_018984.4(SSH1):c.1108G>A (p.Ala370Thr)	SSH1 (A381T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773549	NM_018984.4(SSH1):c.954C>T (p.Leu318=)	SSH1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2488416	NM_018984.4(SSH1):c.897G>C (p.Met299Ile)	SSH1 (M299I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334661	NM_018984.4(SSH1):c.829C>T (p.Arg277Cys)	SSH1 (R288C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225487	NM_018984.4(SSH1):c.758G>A (p.Arg253His)	LOC126861631, SSH1 (R253H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621623	NM_018984.4(SSH1):c.754G>A (p.Glu252Lys)	LOC126861631, SSH1 (E263K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374705	NM_018984.4(SSH1):c.703C>A (p.Pro235Thr)	SSH1 (P235T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536121	NM_018984.4(SSH1):c.683A>G (p.Gln228Arg)	SSH1 (Q228R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619064	NM_018984.4(SSH1):c.629A>G (p.Tyr210Cys)	SSH1 (Y221C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643267	NM_018984.4(SSH1):c.597C>T (p.Pro199=)	SSH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3322803	NM_018984.4(SSH1):c.587A>G (p.Asn196Ser)	SSH1 (N196S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357250	NM_018984.4(SSH1):c.578G>A (p.Arg193Gln)	SSH1 (R204Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266996	NM_018984.4(SSH1):c.568G>A (p.Glu190Lys)	SSH1 (E201K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275291	NM_018984.4(SSH1):c.475T>G (p.Phe159Val)	SSH1 (F159V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322806	NM_018984.4(SSH1):c.431G>A (p.Arg144Gln)	SSH1 (R155Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360968	NM_018984.4(SSH1):c.347G>A (p.Arg116His)	SSH1 (R116H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378700	NM_018984.4(SSH1):c.305C>T (p.Ala102Val)	SSH1 (A102V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719504	NM_018984.4(SSH1):c.286C>T (p.Arg96Cys)	SSH1 (R107C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3170373	NM_018984.4(SSH1):c.205A>G (p.Lys69Glu)	SSH1 (K69E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322809	NM_018984.4(SSH1):c.204C>G (p.His68Gln)	SSH1 (H68Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322811	NM_018984.4(SSH1):c.185G>A (p.Arg62Gln)	SSH1 (R73Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 619061	NM_018984.4(SSH1):c.151_175dup (p.Gln59fs)	SSH1 (Q59fs +1 more)	Duplication (frameshift variant)	Premature ovarian insufficiency	GUncertain significance
Select item 3170371	NM_018984.4(SSH1):c.172C>T (p.Pro58Ser)	SSH1 (P58S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736345	NM_018984.4(SSH1):c.147C>T (p.Ala49=)	SSH1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 791320	NM_018984.4(SSH1):c.110+3A>T	SSH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3170368	NM_018984.4(SSH1):c.105C>G (p.Asn35Lys)	SSH1 (N35K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259771	NM_018984.4(SSH1):c.94C>G (p.Arg32Gly)	SSH1 (R32G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547075	NM_018984.4(SSH1):c.91G>C (p.Asp31His)	SSH1 (D31H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251600	NM_018984.4(SSH1):c.80G>A (p.Gly27Asp)	SSH1 (G27D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221951	NM_018984.4(SSH1):c.46T>G (p.Ser16Ala)	LOC130008710, SSH1 (S16A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170380	NM_018984.4(SSH1):c.43G>T (p.Ala15Ser)	LOC130008710, SSH1 (A15S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053765	NM_018984.4(SSH1):c.-7C>G	LOC130008710, SSH1	Single nucleotide variant (5 prime UTR variant)	SSH1-related disorder	GLikely benign
Select item 1527730	GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805)	ABTB3, ACACB +74 more	Copy number loss	not specified	GLikely pathogenic
Select item 1340640	GRCh37/hg19 12q23.3-24.12(chr12:104230462-111984801)x1	ABTB3, ACACB +73 more	Copy number loss	not provided	GPathogenic
Select item 988907	GRCh37/hg19 12q23.3-24.11(chr12:107197584-109830564)x1	ABTB3, ACACB +23 more	Copy number loss	not provided	GUncertain significance
Select item 980454	GRCh37/hg19 12q23.3-24.12(chr12:106498814-112252906)x1	ABTB3, ACACB +60 more	Copy number loss	not provided	GPathogenic
Select item 815553	GRCh37/hg19 12q24.11(chr12:109199902-110267493)x3	UBE3B, FOXN4 +13 more	Copy number gain	not provided	GUncertain significance
Select item 442495	GRCh37/hg19 12q24.11(chr12:109190922-109989416)x3	ACACB, ALKBH2 +9 more	Copy number gain	See cases	GLikely benign
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 94