"GeneDx"[submitter] AND "KISS1"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1269555	NC_000001.11:g.204190231C>T	KISS1	Single nucleotide variant	not provided	GBenign
Select item 1258690	NM_002256.4(KISS1):c.74_75insCA	KISS1	Insertion (3 prime UTR variant)	not provided	GBenign
Select item 1267581	NM_002256.4(KISS1):c.*73G>C	KISS1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1291541	NM_002256.4(KISS1):c.*70C>G	KISS1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1247896	NM_002256.4(KISS1):c.*70del	KISS1	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1225438	NM_002256.4(KISS1):c.67_68insT	KISS1	Insertion (3 prime UTR variant)	not provided	GBenign
Select item 1226970	NM_002256.4(KISS1):c.407_*9dup (p.Gly136_Ter139=)	KISS1	Duplication (no sequence alteration)	not provided	GBenign
Select item 403018	NM_002256.4(KISS1):c.417del (p.Ter139TrpextTer?)	KISS1	Deletion (frameshift variant +1 more)	not specified +2 more	GBenign
Select item 1303092	NM_002256.4(KISS1):c.349T>C (p.Phe117Leu)	KISS1 (F117L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 716738	NM_002256.4(KISS1):c.328C>A (p.Pro110Thr)	KISS1 (P110T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 501504	NM_002256.4(KISS1):c.268C>G (p.His90Asp)	KISS1 (H90D)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1174871	NM_002256.4(KISS1):c.242C>G (p.Pro81Arg)	KISS1 (P81R)	Single nucleotide variant (missense variant)	Hypogonadotropic hypogonadism 13 with or without anosmia +1 more	GBenign
Select item 1274010	NM_002256.4(KISS1):c.107A>G (p.Gln36Arg)	KISS1 (Q36R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1247304	NM_002256.4(KISS1):c.58G>A (p.Glu20Lys)	KISS1 (E20K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 676952	NM_002256.4(KISS1):c.-38-100C>A	KISS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268890	NM_002256.4(KISS1):c.-38-170A>G	KISS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251415	NM_002256.4(KISS1):c.-38-188A>G	KISS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220113	NM_002256.4(KISS1):c.-73C>T	KISS1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 673558	NM_002256.4(KISS1):c.-89G>A	KISS1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1291542	NM_002256.4(KISS1):c.-145del	KISS1	Deletion (5 prime UTR variant)	not provided	GBenign
Select item 677564	NM_002256.3(KISS1):c.-223G>A	KISS1	Single nucleotide variant	not provided	GLikely benign
Select item 674290	NM_002256.3(KISS1):c.-516T>C	KISS1	Single nucleotide variant	not provided	GBenign
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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Items: 23