STARD6[gene] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC126862717, LOC126862718 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC132090510, LOC132090511 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC132211113, LOC132211114 +1266 more	Copy number gain	See cases	GPathogenic
Select item 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	LOC130062787, LOC130062788 +1005 more	Copy number gain	See cases	GPathogenic
Select item 147762	GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3	ACAA2, ALPK2 +596 more	Copy number gain	See cases	GPathogenic
Select item 154074	GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3	LOC130062694, LOC130062695 +887 more	Copy number gain	See cases	GPathogenic
Select item 148972	GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3	LINC01929, LINC02565 +879 more	Copy number gain	See cases	GPathogenic
Select item 148267	GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3	LOC126862796, LOC126862797 +733 more	Copy number gain	See cases	GPathogenic
Select item 57310	GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3	ADNP2, ALPK2 +706 more	Copy number gain	See cases	GPathogenic
Select item 152372	GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1	LOC130062613, LOC130062614 +664 more	Copy number loss	See cases	GPathogenic
Select item 146087	GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1	LOC130062683, LOC130062684 +664 more	Copy number loss	See cases	GPathogenic
Select item 59964	GRCh38/hg38 18q21.2(chr18:51875428-55658999)x1	C18orf54, CCDC68 +62 more	Copy number loss	See cases	GPathogenic
Select item 59965	GRCh38/hg38 18q21.2-22.1(chr18:52156899-65408762)x1	ALPK2, ATP8B1 +340 more	Copy number loss	See cases	GPathogenic
Select item 150250	GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1	LOC129391005, LOC129391006 +644 more	Copy number loss	See cases	GPathogenic
Select item 147495	GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1	LOC130062551, LOC130062552 +636 more	Copy number loss	See cases	GPathogenic
Select item 150674	GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3	LOC126862818, LOC126862819 +636 more	Copy number gain	See cases	GPathogenic
Select item 57286	GRCh38/hg38 18q21.2(chr18:54291850-55754281)x1	C18orf54, CCDC68 +33 more	Copy number loss	See cases	GPathogenic
Select item 3323107	NM_139171.2(STARD6):c.613G>A (p.Ala205Thr)	STARD6 (A146T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3170975	NM_139171.2(STARD6):c.542C>T (p.Pro181Leu)	STARD6 (P192L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512855	NM_139171.2(STARD6):c.518C>A (p.Thr173Lys)	STARD6 (T173K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323105	NM_139171.2(STARD6):c.511G>C (p.Val171Leu)	STARD6 (V171L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259156	NM_139171.2(STARD6):c.448C>G (p.Pro150Ala)	STARD6 (P161A +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3323104	NM_139171.2(STARD6):c.443A>G (p.Asn148Ser)	STARD6 (N148S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170974	NM_139171.2(STARD6):c.434G>A (p.Arg145His)	STARD6 (R156H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257720	NM_139171.2(STARD6):c.428A>G (p.Tyr143Cys)	STARD6 (Y154C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396866	NM_139171.2(STARD6):c.361G>A (p.Glu121Lys)	STARD6 (E62K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331892	NM_139171.2(STARD6):c.355C>T (p.Arg119Cys)	STARD6 (R60C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211306	NM_139171.2(STARD6):c.344T>C (p.Val115Ala)	STARD6 (V126A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239039	NM_139171.2(STARD6):c.337G>A (p.Asp113Asn)	STARD6 (D54N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206340	NM_139171.2(STARD6):c.326G>A (p.Arg109Gln)	STARD6 (R120Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463457	NM_139171.2(STARD6):c.323C>T (p.Pro108Leu)	STARD6 (P108L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170973	NM_139171.2(STARD6):c.307G>A (p.Val103Met)	STARD6 (V103M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2391237	NM_139171.2(STARD6):c.307G>T (p.Val103Leu)	STARD6 (V103L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318675	NM_139171.2(STARD6):c.289A>G (p.Ile97Val)	STARD6 (I108V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3170972	NM_139171.2(STARD6):c.146G>A (p.Arg49His)	STARD6 (R49H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3323106	NM_139171.2(STARD6):c.58G>T (p.Asp20Tyr)	STARD6 (D20Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062374	GRCh37/hg19 18q21.2-23(chr18:48766173-78014123)x1	ADNP2, ALPK2 +90 more	Copy number loss	not specified	GPathogenic
Select item 2684877	GRCh37/hg19 18q21.2(chr18:51003914-53456476)x3	C18orf54, CCDC68 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1807635	GRCh37/hg19 18q21.2(chr18:51223984-53001044)x3	C18orf54, CCDC68 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1526620	GRCh37/hg19 18q21.2-22.1(chr18:50739715-63705988)	ALPK2, ATP8B1 +52 more	Copy number loss	not specified	GPathogenic
Select item 1526619	GRCh37/hg19 18q21.2-21.31(chr18:50707829-54924248)	BOD1L2, C18orf54 +12 more	Copy number loss	not specified	GPathogenic
Select item 1526617	GRCh37/hg19 18q21.1-23(chr18:47656799-78014123)	MAPK4, MBD1 +101 more	Copy number loss	not specified	GPathogenic
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1326872	Single allele	AKAIN1, LIPG +174 more	Deletion	Intellectual disability	GPathogenic
Select item 1180529	GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3	MAPRE2, TSHZ1 +176 more	Copy number gain	not provided	GPathogenic
Select item 816501	GRCh37/hg19 18q21.2(chr18:51802787-53000275)x3	DYNAP, C18orf54 +5 more	Copy number gain	See cases	GUncertain significance
Select item 816050	GRCh37/hg19 18q21.2-23(chr18:49460596-78014123)x1	BOD1L2, SALL3 +90 more	Copy number loss	not provided	GPathogenic
Select item 686410	GRCh37/hg19 18q21.1-21.33(chr18:45621155-61416536)x3	ACAA2, ALPK2 +66 more	Copy number gain	not provided	GPathogenic
Select item 564571	GRCh37/hg19 18q21.1-23(chr18:46942427-78014123)x1	ACAA2, ADNP2 +107 more	Copy number loss	not provided	GPathogenic
Select item 564568	GRCh37/hg19 18q12.2-21.31(chr18:35866313-55082983)x3	ACAA2, ATP5F1A +55 more	Copy number gain	not provided	GPathogenic
Select item 443993	GRCh37/hg19 18p11.32-q23(chr18:136227-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 443662	GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 443563	GRCh37/hg19 18q21.2-23(chr18:50224898-78014123)x1	ADNP2, ALPK2 +90 more	Copy number loss	See cases	GLikely pathogenic
Select item 443274	GRCh37/hg19 18q21.1-23(chr18:47454437-78014123)x3	LINC01879, LMAN1 +101 more	Copy number gain	See cases	GPathogenic
Select item 443196	GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3	ACAA2, ADNP2 +150 more	Copy number gain	See cases	GPathogenic
Select item 443117	GRCh37/hg19 18q12.3-23(chr18:42930373-78014123)x3	TMX3, TNFRSF11A +128 more	Copy number gain	See cases	GPathogenic
Select item 442528	GRCh37/hg19 18q21.1-23(chr18:43776770-78014123)x3	ACAA2, ADNP2 +121 more	Copy number gain	See cases	GPathogenic
Select item 442013	GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3	ABHD3, ACAA2 +163 more	Copy number gain	See cases	GPathogenic
Select item 441853	GRCh37/hg19 18q12.2-23(chr18:33417216-78014123)x3	ACAA2, ADNP2 +142 more	Copy number gain	See cases	GPathogenic
Select item 441661	GRCh37/hg19 18q21.1-23(chr18:46177798-78014123)x1	WDR7, ZCCHC2 +109 more	Copy number loss	See cases	GPathogenic
Select item 395441	GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 253620	GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 253424	GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3	TNFRSF11A, TXNL1 +267 more	Copy number gain	See cases	GPathogenic

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Items: 73