ClinVar for Gene (Select 55793) - ClinVar

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Links from Gene

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3294887	NM_001376665.1(MINDY1):c.524T>C (p.Leu175Pro)	MINDY1 (L80P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294886	NM_001376665.1(MINDY1):c.947G>A (p.Arg316Gln)	MINDY1 (R316Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294885	NM_001376665.1(MINDY1):c.372A>C (p.Glu124Asp)	MINDY1 (E124D +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3294884	NM_001376665.1(MINDY1):c.1370G>T (p.Arg457Leu)	MINDY1 (R292L +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294882	NM_001376665.1(MINDY1):c.655G>A (p.Asp219Asn)	MINDY1 (D124N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126546	NM_001376665.1(MINDY1):c.853C>A (p.Gln285Lys)	MINDY1 (Q143K +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126545	NM_001376665.1(MINDY1):c.829G>A (p.Val277Met)	MINDY1 (V112M +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126544	NM_001376665.1(MINDY1):c.742G>A (p.Glu248Lys)	MINDY1 (E153K +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126543	NM_001376665.1(MINDY1):c.707T>C (p.Leu236Pro)	MINDY1 (L70P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126541	NM_001376665.1(MINDY1):c.466C>G (p.Pro156Ala)	MINDY1 (P156A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126540	NM_001376665.1(MINDY1):c.-90+161T>A	LOC129931419, MINDY1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3126539	NM_001376665.1(MINDY1):c.410G>T (p.Cys137Phe)	MINDY1 (C137F +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3126538	NM_001376665.1(MINDY1):c.403G>A (p.Gly135Ser)	MINDY1 (G135S +1 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3126537	NM_001376665.1(MINDY1):c.-90+203C>G	MINDY1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3126536	NM_001376665.1(MINDY1):c.305A>C (p.Gln102Pro)	MINDY1 (Q7P +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3126535	NM_001376665.1(MINDY1):c.266A>G (p.Glu89Gly)	MINDY1 (E89G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3126534	NM_001376665.1(MINDY1):c.-90+191C>T	MINDY1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3126533	NM_001376665.1(MINDY1):c.101A>G (p.His34Arg)	MINDY1 (H34R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126532	NM_001376665.1(MINDY1):c.32C>T (p.Pro11Leu)	MINDY1 (P11L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126531	NM_001376665.1(MINDY1):c.1360G>A (p.Gly454Arg)	MINDY1 (G279R +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126530	NM_001376665.1(MINDY1):c.1337G>A (p.Gly446Glu)	MINDY1 (G281E +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126529	NM_001376665.1(MINDY1):c.1310C>T (p.Thr437Met)	MINDY1 (T262M +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126528	NM_001376665.1(MINDY1):c.1306C>T (p.Arg436Trp)	MINDY1 (R294W +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126527	NM_001376665.1(MINDY1):c.1301G>A (p.Arg434Gln)	MINDY1 (R372Q +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126526	NM_001376665.1(MINDY1):c.1177T>C (p.Tyr393His)	MINDY1 (Y228H +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3126525	NM_001376665.1(MINDY1):c.1001T>C (p.Val334Ala)	MINDY1 (V168A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126524	NM_001376665.1(MINDY1):c.872C>T (p.Ala291Val)	MINDY1 (A291V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2639167	NM_001376665.1(MINDY1):c.1359C>T (p.Ala453=)	MINDY1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2624212	NM_001376665.1(MINDY1):c.212C>T (p.Pro71Leu)	MINDY1 (P71L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589012	NM_001376665.1(MINDY1):c.49G>A (p.Ala17Thr)	MINDY1 (A17T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588048	NM_001376665.1(MINDY1):c.232C>G (p.Pro78Ala)	MINDY1 (P78A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2560697	NM_001376665.1(MINDY1):c.1081G>A (p.Asp361Asn)	MINDY1 (D196N +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540083	NM_001376665.1(MINDY1):c.-80T>C	MINDY1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2489207	NM_001376665.1(MINDY1):c.1366C>T (p.Arg456Cys)	MINDY1 (R361C +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478967	NM_001376665.1(MINDY1):c.979A>G (p.Lys327Glu)	MINDY1 (K162E +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455777	NM_001376665.1(MINDY1):c.233C>T (p.Pro78Leu)	MINDY1 (P78L)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	CRTC2, KHDC4 +228 more	Duplication	MHC class II deficiency +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 565180	GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3	LCE2A, S100A2 +125 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 393719	GRCh37/hg19 1q21.1-21.3(chr1:143753740-151399970)x3	ACP6, ADAMTSL4 +103 more	Copy number gain	See cases	GPathogenic
Select item 225520	GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3	CIART, LCE2A +154 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 150034	GRCh38/hg38 1q21.3(chr1:150989333-151584777)x1	ANXA9, BNIPL +59 more	Copy number loss	See cases	GLikely pathogenic

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Links from Gene

Items: 48